Product Details

SNP ID

rs147527561

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:167433055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCCATCGTGCCCCTTGCCCCTC[C/T]GGCGCTGGTTGTTTGGGAGTGAAAT

Phenotype

MIM: 186780 MIM: 164175

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CD247 PubMed Links

Gene Details

Gene

CD247

Gene Name

CD247 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000734.3	617	Missense Mutation	CAG,CGG	Q132R	NP_000725.1
NM_198053.2	617	Missense Mutation	CAG,CGG	Q133R	NP_932170.1
XM_011510144.2	617	Missense Mutation	CAG,CGG	Q141R	XP_011508446.1
XM_011510145.1	617	Missense Mutation	CAG,CGG	Q140R	XP_011508447.1
XM_017002800.1	617	Missense Mutation	CAG,CGG	Q164R	XP_016858289.1
XM_017002801.1	617	Missense Mutation	CAG,CGG	Q163R	XP_016858290.1

Gene

POU2F1

Gene Name

POU class 2 homeobox 1

There are no transcripts associated with this gene.

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