Product Details

SNP ID: rs200997921
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:141150574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACTGAGCCGTGTGTGCTACCTTTCC[A/G]AGTGTTACTGGAAAACCCCTTGCAG
Phenotype: MIM: 606332
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PCDHB17P PubMed Links

Gene Details

There are no transcripts associated with this gene.

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303145.1	348	UTR 5			NP_001290074.1
NM_018939.3	348	Missense Mutation	CAA,CGA	Q106R	NP_061762.2