Product Details

SNP ID
rs147502915
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17306550 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCTCAACTTCTCAGGAGAAGG[A/C]CATCAGCATTTGGGAGTCAAAGAAT
Phenotype
MIM: 605292
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
NT5M PubMed Links

Gene Details

Gene
NT5M
Gene Name
5',3'-nucleotidase, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020201.3 460 Missense Mutation GAC,GCC D92A NP_064586.1
XM_005256731.3 460 Missense Mutation GAC,GCC D92A XP_005256788.1
XM_005256732.3 460 Missense Mutation GAC,GCC D92A XP_005256789.1
XM_005256733.3 460 Missense Mutation GAC,GCC D92A XP_005256790.1
XM_005256734.3 460 Missense Mutation GAC,GCC D92A XP_005256791.1
XM_005256737.1 460 UTR 5 XP_005256794.1
XM_011523962.2 460 Missense Mutation GAC,GCC D92A XP_011522264.1
XM_011523963.1 460 UTR 5 XP_011522265.1
XM_011523964.2 460 UTR 5 XP_011522266.1
XM_011523965.2 460 UTR 5 XP_011522267.1
XM_011523966.1 460 Missense Mutation GAC,GCC D92A XP_011522268.1
XM_011523967.2 460 Missense Mutation GAC,GCC D92A XP_011522269.1
XM_017024879.1 460 UTR 5 XP_016880368.1

View Full Product Details