Product Details

SNP ID: rs199812597
Assay Type: Functionally tested
NCBI dbSNP Submissions: 3
Location: Chr.1:152884436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTGTTCAGAAGATGTGTGACCAGA[A/C]AAAACACAGTAAATGCTGCCCAGCA
Phenotype: MIM: 601148
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: SMCP PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030663.2	159	Missense Mutation	AAA,ACA	K5T	NP_109588.2