Product Details

SNP ID

rs137861407

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241851210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGTCTGCTCAGGGACACAGGGCA[C/T]GGGGGGCTCCGGGGTCTTCTCTCGC

Phenotype

MIM: 600244

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PDCD1 PubMed Links

Gene Details

Gene

PDCD1

Gene Name

programmed cell death 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005018.2	782	Missense Mutation	ATG,GTG	M239V	NP_005009.2
XM_006712573.2	782	Intron			XP_006712636.1
XM_017004293.1	782	Missense Mutation	ATG,GTG	M238V	XP_016859782.1

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