Product Details
- SNP ID
-
rs142033729
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:17306639 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGCTGTCAAGGAGATGGCCAGCCTA[C/G]AAAAGTAAGTTTGTCCTCCCAGCCA
- Phenotype
-
MIM: 605292
- Polymorphism
- C/G, 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 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
NP_064586.1 |
XM_005256731.3 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_005256788.1 |
XM_005256732.3 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_005256789.1 |
XM_005256733.3 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_005256790.1 |
XM_005256734.3 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_005256791.1 |
XM_005256737.1 |
549 |
Missense Mutation |
CAA,GAA |
Q5E |
XP_005256794.1 |
XM_011523962.2 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_011522264.1 |
XM_011523963.1 |
549 |
Missense Mutation |
CAA,GAA |
Q5E |
XP_011522265.1 |
XM_011523964.2 |
549 |
Missense Mutation |
CAA,GAA |
Q5E |
XP_011522266.1 |
XM_011523965.2 |
549 |
Missense Mutation |
CAA,GAA |
Q5E |
XP_011522267.1 |
XM_011523966.1 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_011522268.1 |
XM_011523967.2 |
549 |
Missense Mutation |
CAA,GAA |
Q122E |
XP_011522269.1 |
XM_017024879.1 |
549 |
Missense Mutation |
CAA,GAA |
Q5E |
XP_016880368.1 |
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