Product Details

SNP ID
rs184894260
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:167433039 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTCCTACCTGGTAAAGGCCATC[A/G]TGCCCCTTGCCCCTCCGGCGCTGGT
Phenotype
MIM: 186780 MIM: 164175
Polymorphism
A/G, 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_000734.3 633 Silent Mutation CAC,CAT H137H NP_000725.1
NM_198053.2 633 Silent Mutation CAC,CAT H138H NP_932170.1
XM_011510144.2 633 Silent Mutation CAC,CAT H146H XP_011508446.1
XM_011510145.1 633 Silent Mutation CAC,CAT H145H XP_011508447.1
XM_017002800.1 633 Silent Mutation CAC,CAT H169H XP_016858289.1
XM_017002801.1 633 Silent Mutation CAC,CAT H168H XP_016858290.1
Gene
POU2F1
Gene Name
POU class 2 homeobox 1
There are no transcripts associated with this gene.

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