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Genome Displays Related Resources Gene HomoloGene MANE RefSeq
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Report for CCDS4581.1 (current version)
CCDS |
Status |
Species |
Chrom. |
Gene |
CCDS Release |
NCBI Annotation Release |
Ensembl Annotation Release |
Links |
4581.1 |
Public |
Homo sapiens |
6 |
HFE |
24 |
110 |
108 |
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Public Note for CCDS 4581.1 |
This CCDS ID represents a variant of the HFE gene that lacks two internal coding exons compared to the longest variant, which is represented by CCDS4578.1. This results in an isoform that lacks the entire Class I Histocompatibility antigen (MHC_I) domain, but the Immunoglobulin constant region (IGc) domain is included. |
Public since: CCDS release 1, NCBI annotation release 35.1, Ensembl annotation release 23
Review status: Reviewed (by RefSeq, Havana and CCDS collaboration) Sequence IDs included in CCDS 4581.1
Original |
Current |
Source |
Nucleotide ID |
Protein ID |
MANE |
Status in CCDS |
Seq. Status |
Links |
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EBI |
ENST00000353147.9 |
ENSP00000312342.5 |
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Accepted |
alive |
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NCBI |
NM_139010.3 |
NP_620579.1 |
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Accepted |
alive |
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RefSeq |
Length |
Related UniProtKB/SwissProt |
Length |
Identity |
Gaps |
Mismatches |
NP_620579.1 |
168 |
Q30201-6 |
168 |
100% |
0 |
0 |
Chromosomal Locations for CCDS 4581.1
Assembly GRCh38.p14 (GCF_000001405.40)
CCDS Sequence Data |
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Blue highlighting indicates alternating exons. | Red highlighting indicates amino acids encoded across a splice junction. | | Mouse over the nucleotide or protein sequence below and click on the highlighted codon or residue to select the pair. |
Nucleotide Sequence (507 nt): ATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCT TGCTGCTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGC CTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAG TTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCC CTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTG GGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTG TTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCT TAGCTGAACGTGAGTGA
Translation (168 aa): MGPRARPALLLLMLLQTAVLQGRLLLPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKE FEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSRGAMGHYVLAERE
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