ClinVar

NM_001379228.1(MRAP):c.132G>T (p.Val44=)

Genes:

MRAP-AS1:MRAP antisense RNA 1 [Gene - HGNC]
LOC125418060:Sharpr-MPRA regulatory region 333 [Gene]
MRAP:melanocortin 2 receptor accessory protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 32306665 (on Assembly GRCh38)
• Chr21: 33678976 (on Assembly GRCh37)

Preferred name:

NM_001379228.1(MRAP):c.132G>T (p.Val44=)

HGVS:

• NC_000021.9:g.32306665G>T
• NG_016234.1:g.19853G>T
• NM_001285394.2:c.-46G>T
• NM_001379228.1:c.132G>TMANE SELECT
• NM_178817.4:c.132G>T
• NM_206898.2:c.132G>T
• NP_001366157.1:p.Val44=
• NP_848932.1:p.Val44=
• NP_996781.1:p.Val44=
• NC_000021.8:g.33678976G>T
• NM_178817.3:c.132G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs17855142

NCBI 1000 Genomes Browser:

rs17855142

Molecular consequence:

• NM_001285394.2:c.-46G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379228.1:c.132G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178817.4:c.132G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_206898.2:c.132G>T - synonymous variant - [Sequence Ontology: SO:0001819]