Product Details

SNP ID

rs77237820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:232765966 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGCAAGACTTCATGACCAAGCT[C/T]CCAGATGATCCAGGTTAGTGAGCTG

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	3209	Intron			NP_001096616.1
NM_001103147.1	3209	Intron			NP_001096617.1
NM_001103148.1	3209	Intron			NP_001096618.1
NM_015575.3	3209	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	3209	UTR 3			NP_001165887.1
NM_001172417.1	3209	UTR 3			NP_001165888.1
NM_002242.4	3209	UTR 3			NP_002233.2

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