Product Details

SNP ID: rs143559471
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:24650804 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAAAGCATTTTACAATATTATATCT[A/G]AGTTGCACAGAAGACCCCAGTGATC
Phenotype: MIM: 609269 MIM: 605764
Polymorphism: A/G, 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	1098	Missense Mutation	TCA,TTA	S358L	NP_057698.2