Product Details

SNP ID
rs140416149
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:30313808 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGGCCGATTACTTGATATGGAA[A/G]GTCGATCTGTATCTTCCTGTTGTAA
Phenotype
MIM: 613669
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MTPAP PubMed Links

Gene Details

Gene
MTPAP
Gene Name
mitochondrial poly(A) polymerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018109.3 1613 Missense Mutation CCT,CTT P517L NP_060579.3

View Full Product Details