Product Details

SNP ID: rs78408678
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:8731968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATTGAGACTCGAAAGACTTGGGGT[A/T]CTGCGAGTTTGTGACTGTGAAGACA
Phenotype: MIM: 615759
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: KIDINS220 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020738.2	4250	Missense Mutation	AGA,AGT	R1356S	NP_065789.1