Product Details

SNP ID: rs199794109
Assay Type: Functionally tested
NCBI dbSNP Submissions: 3
Location: Chr.1:11858720 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTCACCTGTAACCCGGACGTTTC[C/T]AAGTCCGAGGCTGAACCGGGGCTGC
Phenotype: MIM: 600295
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: NPPB PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002521.2	216	Silent Mutation	TTA,TTG	L38L	NP_002512.1