Product Details

SNP ID

rs140791302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:22548293 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGGATACAGCACGTGGGTCAGA[C/T]TGCTCAGCCCGATGAGGTGCTGCAG

Phenotype

MIM: 606021

Polymorphism

C/T, Transition 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	1829	Missense Mutation	AAT,AGT	N435S	NP_001278644.1
NM_001291716.1	1829	Missense Mutation	AAT,AGT	N435S	NP_001278645.1
NM_001291717.1	1829	Missense Mutation	AAT,AGT	N419S	NP_001278646.1
NM_001291719.1	1829	Missense Mutation	AAT,AGT	N419S	NP_001278648.1
NM_001318126.1	1829	Missense Mutation	AAT,AGT	N419S	NP_001305055.1
NM_001318127.1	1829	Missense Mutation	AAT,AGT	N419S	NP_001305056.1
NM_006115.4	1829	Missense Mutation	AAT,AGT	N435S	NP_006106.1
NM_206953.2	1829	Missense Mutation	AAT,AGT	N435S	NP_996836.1
NM_206954.2	1829	Missense Mutation	AAT,AGT	N435S	NP_996837.1
NM_206955.2	1829	Missense Mutation	AAT,AGT	N435S	NP_996838.1
NM_206956.2	1829	Missense Mutation	AAT,AGT	N435S	NP_996839.1
XM_011530034.2	1829	Missense Mutation	AAT,AGT	N419S	XP_011528336.1

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