Product Details

SNP ID
rs147191772
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:232768467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCCTCCTGCATTGCTGAAAGGAA[C/T]ACAACTAATTCAAAGTGAGAAGGAT
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_001103146.1 708 Intron NP_001096616.1
NM_001103147.1 708 Intron NP_001096617.1
NM_001103148.1 708 Intron NP_001096618.1
NM_015575.3 708 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_001172416.1 708 UTR 3 NP_001165887.1
NM_001172417.1 708 Silent Mutation GTA,GTG V189V NP_001165888.1
NM_002242.4 708 Silent Mutation GTA,GTG V269V NP_002233.2

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