Product Details

SNP ID

rs200409469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:8731142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAATTGGATCTTGCAGGCCACTCA[C/G]GCTATGTGGGATTCCCCGCTTTCCG

Phenotype

MIM: 615759

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KIDINS220 PubMed Links

Gene Details

Gene

KIDINS220

Gene Name

kinase D-interacting substrate 220kDa

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020738.2	5076	Missense Mutation	CTG,GTG	L1632V	NP_065789.1

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