Product Details

SNP ID

rs146650047

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:22548481 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGGTGGCAGAGGCTCTCTCCAG[C/G]AGAGCTTGGAGGGGCTCGGGACTTA

Phenotype

MIM: 606021

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PRAME PubMed Links

Gene Details

Gene

PRAME

Gene Name

preferentially expressed antigen in melanoma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291715.1	1641	Silent Mutation	CTC,CTG	L372L	NP_001278644.1
NM_001291716.1	1641	Silent Mutation	CTC,CTG	L372L	NP_001278645.1
NM_001291717.1	1641	Silent Mutation	CTC,CTG	L356L	NP_001278646.1
NM_001291719.1	1641	Silent Mutation	CTC,CTG	L356L	NP_001278648.1
NM_001318126.1	1641	Silent Mutation	CTC,CTG	L356L	NP_001305055.1
NM_001318127.1	1641	Silent Mutation	CTC,CTG	L356L	NP_001305056.1
NM_006115.4	1641	Silent Mutation	CTC,CTG	L372L	NP_006106.1
NM_206953.2	1641	Silent Mutation	CTC,CTG	L372L	NP_996836.1
NM_206954.2	1641	Silent Mutation	CTC,CTG	L372L	NP_996837.1
NM_206955.2	1641	Silent Mutation	CTC,CTG	L372L	NP_996838.1
NM_206956.2	1641	Silent Mutation	CTC,CTG	L372L	NP_996839.1
XM_011530034.2	1641	Silent Mutation	CTC,CTG	L356L	XP_011528336.1

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