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    KIR3DL3 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 [ Homo sapiens (human) ]

    Gene ID: 115653, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIR3DL3provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3provided by HGNC
    Primary source
    HGNC:HGNC:16312
    See related
    Ensembl:ENSG00000242019 MIM:610095; AllianceGenome:HGNC:16312
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIR44; KIRC1; CD158Z; KIR3DL7; KIR2DL5B
    Summary
    Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KIR3DL3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54724442..54736632)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57817388..57829560)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55235947..55248099)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 1 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55275257-55276456

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nature of allelic sequence polymorphism at the KIR3DL3 locus. Jones DC, et al. Immunogenetics, 2006 Aug. PMID 16823588
    2. Inhibition of natural killer cell activation signals by killer cell immunoglobulin-like receptors (CD158). Long EO, et al. Immunol Rev, 2001 Jun. PMID 11513144
    3. Natural killer cell immunoglobulin-like receptor (KIR) locus profiles in African and South Asian populations. Norman PJ, et al. Genes Immun, 2002 Apr. PMID 11960306
    4. Seventeen novel alleles add to the already extensive KIR3DL3 diversity. Hou L, et al. Tissue Antigens, 2007 Dec. PMID 17900289
    5. KIR3DL3 allelic diversity: six new alleles exhibit both conservative and non-conservative substitutions. Steiner NK, et al. Tissue Antigens, 2006 Apr. PMID 16634863

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polymorphic KIR3DL3 expression modulates tissue-resident and innate-like T cells.
      Title: Polymorphic KIR3DL3 expression modulates tissue-resident and innate-like T cells.
    2. KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy.
      Title: KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy.
    3. KIR3DL3-HHLA2 is a human immunosuppressive pathway and a therapeutic target.
      Title: KIR3DL3-HHLA2 is a human immunosuppressive pathway and a therapeutic target.
    4. KIR3DL3 Is an Inhibitory Receptor for HHLA2 that Mediates an Alternative Immunoinhibitory Pathway to PD1.
      Title: KIR3DL3 Is an Inhibitory Receptor for HHLA2 that Mediates an Alternative Immunoinhibitory Pathway to PD1.
    5. Higher proportion of NK cells expressing inhibitory CD158b and CD158e receptors is associated with significant liver injury in children with chronic hepatitis C.
      Title: Expression of Natural Killer Cell Inhibitory Receptors is Associated with Significant Liver Injury in Chronic Hepatitis C in Children.
    6. Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes.
      Title: Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome.
    7. The frequencies of alleles of killer cell immunoglobulin-like receptor genes, KIR3DL3 and KIR3DL2, and the carrier frequency of KIR2DL4 alleles have been determined from a population of African Americans by DNA sequencing of the coding regions.
      Title: The characteristics of allelic polymorphism in killer-immunoglobulin-like receptor framework genes in African Americans.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection.
    9. Seventeen novel alleles have been added to the already extensive KIR3DL3 diversity.
      Title: Seventeen novel alleles add to the already extensive KIR3DL3 diversity.
    10. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen-C group in susceptibility to human T-lymphotropic virus 1-associated myelopathy/tropical spastic paraparesis in Peru.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    killer cell immunoglobulin-like receptor 3DL3
    Names
    CD158 antigen-like family member Z
    KIR2DL5B*011
    KIR2DS2*00101
    KIR2DS2*00101-v
    KIR2DS2*00102
    KIR2DS2*00105
    KIR2DS2*004
    KIR3DL3 Killer-cell Immunoglobulin-like Receptor
    KIR3DL3*00301
    KIR3DL3*00402
    KIR3DL3*00701
    KIR3DL3*00802
    KIR3DL3*00901
    KIR3DL3*012
    KIR3DL3*01402
    KIR3DL3*01403
    KIR3DL3*01403-v
    KIR3DL3*01404
    KIR3DL3*01406
    KIR3DL3*01601
    KIR3DL3*020
    KIR3DL3*02801
    KIR3DL3*034
    KIR3DL3*050
    KIR3DL3*071-v
    killer cell Ig-like receptor KIR3DL7
    killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
    killer cell inhibitory receptor 1
    killer-cell immunoglobulin-like receptor 3DL3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050568.1 RefSeqGene

      Range
      4996..17186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    2. NG_005994.1 

      Range
      469..12519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153443.5 → NP_703144.3  killer cell immunoglobulin-like receptor 3DL3 precursor

      See identical proteins and their annotated locations for NP_703144.3

      Status: REVIEWED

      Source sequence(s)
      AC245128, AJ938052, AJ938056, BC136283
      Consensus CDS
      CCDS12903.1
      UniProtKB/Swiss-Prot
      A0A0B4J1R5, A9PL62, A9PL64, A9PL65, A9PL66, A9PL67, A9PL68, A9PZV4, A9PZV7, A9PZV8, A9Q066, A9Q0R5, A9Q242, A9Q250, A9Q251, O95056, Q1X775, Q1X777, Q1X778, Q1X779, Q8N743
      UniProtKB/TrEMBL
      A0A0C4ZNX4, A0A0G2JNK0, A0A8I5QEB2
      Related
      ENSP00000291860.1, ENST00000291860.2
      Conserved Domains (3) summary
      cd00096
      Location:224 → 228
      Ig; Ig strand A [structural motif]
      cd05711
      Location:123 → 217
      IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
      cl11960
      Location:223 → 315
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54724442..54736632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107300.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107301.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107302.1 Reference GRCh38.p14 PATCHES

      Range
      26075..38226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107303.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107304.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107305.1 Reference GRCh38.p14 PATCHES

      Range
      26072..38219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107306.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107307.1 Reference GRCh38.p14 PATCHES

      Range
      26072..38220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107308.1 Reference GRCh38.p14 PATCHES

      Range
      26072..38219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107309.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107311.1 Reference GRCh38.p14 PATCHES

      Range
      26072..38245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107312.1 Reference GRCh38.p14 PATCHES

      Range
      140917..153094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107313.1 Reference GRCh38.p14 PATCHES

      Range
      26066..38252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_016107314.1 Reference GRCh38.p14 PATCHES

      Range
      26072..38244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      630130..642277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      813227..825377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      707320..719470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      628836..640984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      450508..462680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      707061..719213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_10

    Genomic

    1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

      Range
      210570..222742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_11

    Genomic

    1. NT_187637.1 Reference GRCh38.p14 ALT_REF_LOCI_11

      Range
      132186..144334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_12

    Genomic

    1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

      Range
      118766..130981 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_13

    Genomic

    1. NT_187639.1 Reference GRCh38.p14 ALT_REF_LOCI_13

      Range
      132768..144957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_14

    Genomic

    1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

      Range
      165997..178168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_15

    Genomic

    1. NT_187641.1 Reference GRCh38.p14 ALT_REF_LOCI_15

      Range
      171770..183963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_16

    Genomic

    1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

      Range
      117287..129468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_17

    Genomic

    1. NT_187643.1 Reference GRCh38.p14 ALT_REF_LOCI_17

      Range
      132445..144633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_18

    Genomic

    1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

      Range
      146205..158420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_19

    Genomic

    1. NT_187645.1 Reference GRCh38.p14 ALT_REF_LOCI_19

      Range
      132461..144609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_20

    Genomic

    1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

      Range
      166950..179126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_21

    Genomic

    1. NT_187669.1 Reference GRCh38.p14 ALT_REF_LOCI_21

      Range
      132439..144596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_22

    Genomic

    1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

      Range
      146293..158445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_23

    Genomic

    1. NT_187671.1 Reference GRCh38.p14 ALT_REF_LOCI_23

      Range
      3408..15556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_24

    Genomic

    1. NT_187672.1 Reference GRCh38.p14 ALT_REF_LOCI_24

      Range
      26072..38220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_25

    Genomic

    1. NT_187673.1 Reference GRCh38.p14 ALT_REF_LOCI_25

      Range
      132446..144636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_26

    Genomic

    1. NT_187674.1 Reference GRCh38.p14 ALT_REF_LOCI_26

      Range
      11290..23437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_27

    Genomic

    1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

      Range
      23005..35177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_28

    Genomic

    1. NT_187676.1 Reference GRCh38.p14 ALT_REF_LOCI_28

      Range
      421..12569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_29

    Genomic

    1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

      Range
      15438..27620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_30

    Genomic

    1. NT_187683.1 Reference GRCh38.p14 ALT_REF_LOCI_30

      Range
      230..10809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_31

    Genomic

    1. NT_187684.1 Reference GRCh38.p14 ALT_REF_LOCI_31

      Range
      162496..174708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_32

    Genomic

    1. NT_187685.1 Reference GRCh38.p14 ALT_REF_LOCI_32

      Range
      131931..144083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_33

    Genomic

    1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

      Range
      177446..189666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_34

    Genomic

    1. NT_187687.1 Reference GRCh38.p14 ALT_REF_LOCI_34

      Range
      132277..144472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_35

    Genomic

    1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

      Range
      139138..151310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57817388..57829560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N743.2 GenPept UniProtKB/Swiss-Prot:Q8N743

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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