Product Details
- SNP ID
-
rs200777085
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:97451798 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGGTCTAGTACAGCGCTGGCGCTA[C/T]GGCAAGGTCTGCCTGCGCTCCCTGC
- Phenotype
-
MIM: 606493
MIM: 614777
MIM: 616750
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EXOSC1
PubMed Links
Gene Details
- Gene
- EXOSC1
- Gene Name
- exosome component 1
There are no transcripts associated with this gene.
- Gene
- MMS19
- Gene Name
- MMS19 homolog, cytosolic iron-sulfur assembly component
There are no transcripts associated with this gene.
- Gene
- ZDHHC16
- Gene Name
- zinc finger DHHC-type containing 16
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001287803.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_001274732.1 |
| NM_001287804.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_001274733.1 |
| NM_032327.3 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_115703.2 |
| NM_198043.2 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_932160.1 |
| NM_198044.2 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_932161.1 |
| NM_198045.2 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_932162.1 |
| NM_198046.2 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
NP_932163.1 |
| XM_006718021.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718084.1 |
| XM_006718022.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718085.1 |
| XM_006718023.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718086.1 |
| XM_006718024.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718087.1 |
| XM_006718025.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718088.1 |
| XM_006718026.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_006718089.1 |
| XM_017016766.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872255.1 |
| XM_017016767.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872256.1 |
| XM_017016768.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872257.1 |
| XM_017016769.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872258.1 |
| XM_017016770.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872259.1 |
| XM_017016771.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872260.1 |
| XM_017016772.1 |
339 |
Silent Mutation |
TAC,TAT |
Y41Y |
XP_016872261.1 |
| XM_017016773.1 |
339 |
UTR 5 |
|
|
XP_016872262.1 |
| XM_017016774.1 |
339 |
UTR 5 |
|
|
XP_016872263.1 |
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