Product Details

SNP ID: rs143779356
Assay Type: Functionally tested
NCBI dbSNP Submissions: 15
Location: Chr.1:85252657 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTTTTCTTCTTTGCTGGTTCTCCT[A/G]GCTCTACTTTGCGCTTTTTAGAAGT
Phenotype
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: C1orf52 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198077.3	560	Missense Mutation	CCA,CTA	P174L	NP_932343.1