Product Details

SNP ID: rs185687051
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:56113474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACACTTTCCCAAACTTAACTGTCCT[C/G]CAGTGCGGCAGTGAGGCTCCCCTGC
Phenotype: MIM: 190060
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: MOS PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005372.1	509	Missense Mutation	GCA,GGA	A170G	NP_005363.1