Product Details

SNP ID: rs147769041
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:102937376 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGACTTCCTGCTCAAGTTCCTGCTG[A/G]TGGGCGACAGGGACGTAGGCAAGAG
Phenotype: MIM: 300405
Polymorphism: A/G, Transition 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	105	Missense Mutation	ATG,GTG	M20V	NP_001027004.1