Product Details

SNP ID
rs5926291
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:23339678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCCAAATGCTGTCTCAACACTT[G/T]CAATCACTATGGGAATCACCATCAT
Phenotype
MIM: 300828
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
PTCHD1 PubMed Links

Gene Details

Gene
PTCHD1
Gene Name
patched domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173495.2 Intron NP_775766.2
XM_011545449.2 Intron XP_011543751.1

View Full Product Details