Product Details

SNP ID: rs148051522
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:24650868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCACAGTCCAGTTTTTCTAATCCAA[C/G]AAGGTCCAAACTTCGGGGAATAATG
Phenotype: MIM: 609269 MIM: 605764
Polymorphism: C/G, Transversion 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	1034	Missense Mutation	CTT,GTT	L337V	NP_057698.2