Product Details
- SNP ID
-
rs144416594
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:97460697 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCTGTCTCCAGAAAGGACGTACCC[A/G]GGCTGTAAGGCAGGAGCTGAGAGGA
- Phenotype
-
MIM: 614777
MIM: 616750
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MMS19
PubMed Links
Gene Details
- Gene
- MMS19
- Gene Name
- MMS19 homolog, cytosolic iron-sulfur assembly component
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001289403.1 |
3093 |
Missense Mutation |
CGG,TGG |
R780W |
NP_001276332.1 |
NM_001289404.1 |
3093 |
Missense Mutation |
CGG,TGG |
R664W |
NP_001276333.1 |
NM_001289405.1 |
3093 |
Missense Mutation |
CGG,TGG |
R823W |
NP_001276334.1 |
NM_022362.4 |
3093 |
Missense Mutation |
CGG,TGG |
R823W |
NP_071757.4 |
XM_005270035.2 |
3093 |
Missense Mutation |
CGG,TGG |
R665W |
XP_005270092.1 |
XM_005270041.1 |
3093 |
Missense Mutation |
CGG,TGG |
R622W |
XP_005270098.1 |
XM_006717944.3 |
3093 |
Missense Mutation |
CGG,TGG |
R822W |
XP_006718007.2 |
XM_006717945.2 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_006718008.1 |
XM_011540062.1 |
3093 |
Missense Mutation |
CGG,TGG |
R622W |
XP_011538364.1 |
XM_011540063.2 |
3093 |
Missense Mutation |
CGG,TGG |
R408W |
XP_011538365.1 |
XM_017016515.1 |
3093 |
Missense Mutation |
CGG,TGG |
R862W |
XP_016872004.1 |
XM_017016516.1 |
3093 |
Missense Mutation |
CGG,TGG |
R861W |
XP_016872005.1 |
XM_017016517.1 |
3093 |
Missense Mutation |
CGG,TGG |
R819W |
XP_016872006.1 |
XM_017016518.1 |
3093 |
Missense Mutation |
CGG,TGG |
R779W |
XP_016872007.1 |
XM_017016519.1 |
3093 |
Missense Mutation |
CGG,TGG |
R764W |
XP_016872008.1 |
XM_017016520.1 |
3093 |
Missense Mutation |
CGG,TGG |
R725W |
XP_016872009.1 |
XM_017016521.1 |
3093 |
Missense Mutation |
CGG,TGG |
R724W |
XP_016872010.1 |
XM_017016522.1 |
3093 |
Missense Mutation |
CGG,TGG |
R665W |
XP_016872011.1 |
XM_017016523.1 |
3093 |
Missense Mutation |
CGG,TGG |
R665W |
XP_016872012.1 |
XM_017016524.1 |
3093 |
Missense Mutation |
CGG,TGG |
R664W |
XP_016872013.1 |
XM_017016525.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872014.1 |
XM_017016526.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872015.1 |
XM_017016527.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872016.1 |
XM_017016528.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872017.1 |
XM_017016529.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872018.1 |
XM_017016530.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872019.1 |
XM_017016531.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872020.1 |
XM_017016532.1 |
3093 |
Missense Mutation |
CGG,TGG |
R459W |
XP_016872021.1 |
XM_017016533.1 |
3093 |
Missense Mutation |
CGG,TGG |
R458W |
XP_016872022.1 |
XM_017016534.1 |
3093 |
Missense Mutation |
CGG,TGG |
R407W |
XP_016872023.1 |
XM_017016535.1 |
3093 |
Missense Mutation |
CGG,TGG |
R407W |
XP_016872024.1 |
- Gene
- ZDHHC16
- Gene Name
- zinc finger DHHC-type containing 16
There are no transcripts associated with this gene.
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