Product Details

SNP ID
rs147082593
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:46793458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACCTTGCTTTTTGCCCACATAGC[A/T]GCTGTACCGGTAAGTCGAGTCCTGC
Phenotype
MIM: 600388
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MEP1A PubMed Links

Gene Details

Gene
MEP1A
Gene Name
meprin A subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005588.2 102 Silent Mutation GCA,GCT A20A NP_005579.2
XM_011514628.1 102 Silent Mutation GCA,GCT A20A XP_011512930.1
XM_011514629.1 102 Silent Mutation GCA,GCT A20A XP_011512931.1

View Full Product Details