Product Details

SNP ID: rs146774692
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:74740323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGTTATAACCAGGCATGTTTGCAC[A/G]ACCAGGATCACCTATTGCTGTTTTC
Phenotype: MIM: 300524
Polymorphism: A/G, 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	4851	Missense Mutation	CGT,TGT	R1412C	NP_001008537.1