Product Details

SNP ID: rs2505327
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.10:27399036 on Build GRCh38
Set Membership: HapMap Validated
Context Sequence [VIC/FAM]: ATAAAAATAGCAAAATAACAGGGTC[A/G]TTCCTGTATAGATGCAAAAACATTG
Phenotype: MIM: 611791
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PTCHD3 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034842.3	1680	Missense Mutation	ACG,ATG	T521M	NP_001030014.2