Product Details

SNP ID: rs145190129
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:70599580 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAAAATCATTTAATTCTTTGTGGAT[G/T]CACGGTCTCCTCCCACCACATTCCT
Phenotype: MIM: 601259
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: AMBN PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016519.5	329	Missense Mutation	ATG,ATT	M76I	NP_057603.1