Product Details

SNP ID: rs199998866
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:74740148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCAGACTCATCCTTGTGGACCTGT[A/T]CTCGCTCCATGTGCTTTCCCTTACA
Phenotype: MIM: 300524
Polymorphism: A/T, Transversion 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	5026	Missense Mutation	GAA,GTA	E1470V	NP_001008537.1