Product Details

SNP ID: rs142635989
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:74740143 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGTCCCAGACTCATCCTTGTGGA[C/T]CTGTTCTCGCTCCATGTGCTTTCCC
Phenotype: MIM: 300524
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: KIAA2022 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008537.2	5031	Missense Mutation			NP_001008537.1