Product Details

SNP ID

rs5758702

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:22548291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGACAGGATACAGCACGTGGGTCA[C/G]ATTGCTCAGCCCGATGAGGTGCTGC

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	1831	Silent Mutation	CTG,GTG	L436V	NP_001278644.1
NM_001291716.1	1831	Silent Mutation	CTG,GTG	L436V	NP_001278645.1
NM_001291717.1	1831	Silent Mutation	CTG,GTG	L420V	NP_001278646.1
NM_001291719.1	1831	Silent Mutation	CTG,GTG	L420V	NP_001278648.1
NM_001318126.1	1831	Silent Mutation	CTG,GTG	L420V	NP_001305055.1
NM_001318127.1	1831	Silent Mutation	CTG,GTG	L420V	NP_001305056.1
NM_006115.4	1831	Silent Mutation	CTG,GTG	L436V	NP_006106.1
NM_206953.2	1831	Silent Mutation	CTG,GTG	L436V	NP_996836.1
NM_206954.2	1831	Silent Mutation	CTG,GTG	L436V	NP_996837.1
NM_206955.2	1831	Silent Mutation	CTG,GTG	L436V	NP_996838.1
NM_206956.2	1831	Silent Mutation	CTG,GTG	L436V	NP_996839.1
XM_011530034.2	1831	Silent Mutation	CTG,GTG	L420V	XP_011528336.1

View Full Product Details