Product Details

SNP ID: rs200643084
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:102937911 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGAGCTTGCAAGACCTCTGCTGCC[G/T]CACCATCGTGTCCTGCACACCTGTG
Phenotype: MIM: 300405
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: RAB40AL PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031834.1	640	Missense Mutation	CGC,CTC	R198L	NP_001027004.1