Product Details
- SNP ID
-
rs145988053
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:670130 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCAGGCTTTGCTTTTCAGATTCGAA[C/G]TAAGTGGATCCCACTGGTGAATGGG
- Phenotype
-
MIM: 603264
MIM: 613889
MIM: 607207
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
LOC105371184
PubMed Links
Gene Details
- Gene
- LOC105371184
- Gene Name
- uncharacterized LOC105371184
There are no transcripts associated with this gene.
- Gene
- RHBDL1
- Gene Name
- rhomboid like 1
There are no transcripts associated with this gene.
- Gene
- RHOT2
- Gene Name
- ras homolog family member T2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_138769.2 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
NP_620124.1 |
| XM_005255660.2 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
XP_005255717.1 |
| XM_005255661.2 |
401 |
Missense Mutation |
ACT,AGT |
T77S |
XP_005255718.1 |
| XM_005255662.2 |
401 |
Missense Mutation |
ACT,AGT |
T77S |
XP_005255719.1 |
| XM_005255663.2 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
XP_005255720.1 |
| XM_006720970.2 |
401 |
UTR 5 |
|
|
XP_006721033.1 |
| XM_006720973.2 |
401 |
UTR 5 |
|
|
XP_006721036.1 |
| XM_017023825.1 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
XP_016879314.1 |
| XM_017023826.1 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
XP_016879315.1 |
| XM_017023827.1 |
401 |
Missense Mutation |
ACT,AGT |
T77S |
XP_016879316.1 |
| XM_017023828.1 |
401 |
Missense Mutation |
ACT,AGT |
T77S |
XP_016879317.1 |
| XM_017023829.1 |
401 |
Missense Mutation |
ACT,AGT |
T95S |
XP_016879318.1 |
| XM_017023830.1 |
401 |
Missense Mutation |
ACT,AGT |
T77S |
XP_016879319.1 |
| XM_017023831.1 |
401 |
UTR 5 |
|
|
XP_016879320.1 |
| XM_017023832.1 |
401 |
UTR 5 |
|
|
XP_016879321.1 |
| XM_017023833.1 |
401 |
UTR 5 |
|
|
XP_016879322.1 |
| XM_017023834.1 |
401 |
UTR 5 |
|
|
XP_016879323.1 |
| XM_017023835.1 |
401 |
UTR 5 |
|
|
XP_016879324.1 |
| XM_017023836.1 |
401 |
UTR 5 |
|
|
XP_016879325.1 |
| XM_017023837.1 |
401 |
UTR 5 |
|
|
XP_016879326.1 |
| XM_017023838.1 |
401 |
UTR 5 |
|
|
XP_016879327.1 |
| XM_017023839.1 |
401 |
UTR 5 |
|
|
XP_016879328.1 |
| XM_017023840.1 |
401 |
UTR 5 |
|
|
XP_016879329.1 |
| XM_017023841.1 |
401 |
UTR 5 |
|
|
XP_016879330.1 |
| XM_017023842.1 |
401 |
UTR 5 |
|
|
XP_016879331.1 |
- Gene
- STUB1
- Gene Name
- STIP1 homology and U-box containing protein 1
There are no transcripts associated with this gene.
- Gene
- WDR90
- Gene Name
- WD repeat domain 90
There are no transcripts associated with this gene.
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