Product Details

SNP ID
rs139594245
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232768622 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGGAAATCCACACTGGTCTGGT[A/G]GAGTTTGCCATTTTCTCTTTCCTGA
Phenotype
MIM: 612003 MIM: 603208
Polymorphism
A/G, 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_001103146.1 553 Intron NP_001096616.1
NM_001103147.1 553 Intron NP_001096617.1
NM_001103148.1 553 Intron NP_001096618.1
NM_015575.3 553 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_001172416.1 553 UTR 3 NP_001165887.1
NM_001172417.1 553 Missense Mutation CAC,TAC H138Y NP_001165888.1
NM_002242.4 553 Missense Mutation CAC,TAC H218Y NP_002233.2

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