Product Details

SNP ID: rs111784356
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:101229574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCTCAATAGATGAGAGGCTGTCAG[A/G]CTGCCTGCTGGAGCCACTAAAAGAA
Phenotype: MIM: 607056
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: IMPG2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016247.3	3642	Missense Mutation	CCT,TCT	P1147S	NP_057331.2