Product Details

SNP ID
rs146797648
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232768585 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGAAGAATGGACATTCGTCAGAA[C/T]TGATGCCATCAAGGTGGAAATCCAC
Phenotype
MIM: 612003 MIM: 603208
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GIGYF2 PubMed Links

Gene Details

Gene
GIGYF2
Gene Name
GRB10 interacting GYF protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001103146.1 590 Intron NP_001096616.1
NM_001103147.1 590 Intron NP_001096617.1
NM_001103148.1 590 Intron NP_001096618.1
NM_015575.3 590 Intron NP_056390.2
Gene
KCNJ13
Gene Name
potassium voltage-gated channel subfamily J member 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172416.1 590 UTR 3 NP_001165887.1
NM_001172417.1 590 Missense Mutation AAT,AGT N150S NP_001165888.1
NM_002242.4 590 Missense Mutation AAT,AGT N230S NP_002233.2

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