Product Details

SNP ID: rs140532942
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:74740352 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGATCACCTATTGCTGTTTTCCCA[C/T]TGCTTTTGCTCACACCCTTGATTGA
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	4822	Missense Mutation	AAT,AGT	N1402S	NP_001008537.1