ClinVar

NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)

Gene:

SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52948080 (on Assembly GRCh38)
• Chr1: 53413752 (on Assembly GRCh37)

Preferred name:

NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)

HGVS:

• NC_000001.11:g.52948080G>A
• NG_012211.1:g.25805G>A
• NM_001007098.3:c.199G>A
• NM_001193599.2:c.128-2675G>A
• NM_001193600.2:c.199G>A
• NM_001193617.2:c.-45G>A
• NM_001330587.2:c.199G>A
• NM_002979.5:c.199G>AMANE SELECT
• NP_001007099.1:p.Gly67Ser
• NP_001180529.1:p.Gly67Ser
• NP_001317516.1:p.Gly67Ser
• NP_002970.2:p.Gly67Ser
• NC_000001.10:g.53413752G>A
• NM_002979.4:c.199G>A

This HGVS expression did not pass validation

Protein change:

G67S

Links:

dbSNP: rs1553143461

NCBI 1000 Genomes Browser:

rs1553143461

Molecular consequence:

• NM_001193617.2:c.-45G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001193599.2:c.128-2675G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007098.3:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193600.2:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330587.2:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002979.5:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]