Product Details

SNP ID: rs115551394
Assay Type: Functionally tested
NCBI dbSNP Submissions: 20
Location: Chr.1:119894295 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACAACCCAAATTGACGAGGGAATC[A/G]CCCCTCTGAGCAGTCCTGGAGGCCC
Phenotype: MIM: 604779
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ADAM30 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021794.3	2230	Missense Mutation	GCG,GTG	A681V	NP_068566.2