Product Details

SNP ID
rs148298128
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:167433042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTACCTGGTAAAGGCCATCGTG[C/G]CCCTTGCCCCTCCGGCGCTGGTTGT
Phenotype
MIM: 186780 MIM: 164175
Polymorphism
C/G, Transversion 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_000734.3 630 Silent Mutation GGC,GGG G136G NP_000725.1
NM_198053.2 630 Silent Mutation GGC,GGG G137G NP_932170.1
XM_011510144.2 630 Silent Mutation GGC,GGG G145G XP_011508446.1
XM_011510145.1 630 Silent Mutation GGC,GGG G144G XP_011508447.1
XM_017002800.1 630 Silent Mutation GGC,GGG G168G XP_016858289.1
XM_017002801.1 630 Silent Mutation GGC,GGG G167G XP_016858290.1
Gene
POU2F1
Gene Name
POU class 2 homeobox 1
There are no transcripts associated with this gene.

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