Product Details

SNP ID

rs201965017

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:22548140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCTGTCCCCACAGTGAGGACAG[C/G]GGTTGGCACTAAGCCAGACCATGCT

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	1982	Missense Mutation	CCC,CGC	P486R	NP_001278644.1
NM_001291716.1	1982	Missense Mutation	CCC,CGC	P486R	NP_001278645.1
NM_001291717.1	1982	Missense Mutation	CCC,CGC	P470R	NP_001278646.1
NM_001291719.1	1982	Missense Mutation	CCC,CGC	P470R	NP_001278648.1
NM_001318126.1	1982	Missense Mutation	CCC,CGC	P470R	NP_001305055.1
NM_001318127.1	1982	Missense Mutation	CCC,CGC	P470R	NP_001305056.1
NM_006115.4	1982	Missense Mutation	CCC,CGC	P486R	NP_006106.1
NM_206953.2	1982	Missense Mutation	CCC,CGC	P486R	NP_996836.1
NM_206954.2	1982	Missense Mutation	CCC,CGC	P486R	NP_996837.1
NM_206955.2	1982	Missense Mutation	CCC,CGC	P486R	NP_996838.1
NM_206956.2	1982	Missense Mutation	CCC,CGC	P486R	NP_996839.1
XM_011530034.2	1982	Missense Mutation	CCC,CGC	P470R	XP_011528336.1

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