Product Details

SNP ID: rs199602263
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:24650829 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGTTGCACAGAAGACCCCAGTGAT[C/T]ACTAGGAAATCTACCACAGTCCAGT
Phenotype: MIM: 609269 MIM: 605764
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: KIAA0319 PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016614.2	1073	Missense Mutation	AAT,GAT	N350D	NP_057698.2