Product Details
- SNP ID
-
rs200969043
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:122273061 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAAAGCAGTCACAAATGTCACAGAA[A/G]AGGCGAGGTTTCTTCTTGGACTGTT
- Phenotype
-
MIM: 179838
MIM: 610034
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CLIP1
PubMed Links
Gene Details
- Gene
- CLIP1
- Gene Name
- CAP-Gly domain containing linker protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001247997.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1377L |
NP_001234926.1 |
| NM_002956.2 |
4126 |
Silent Mutation |
CTC,CTT |
L1366L |
NP_002947.1 |
| NM_198240.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1331L |
NP_937883.1 |
| XM_005253593.2 |
4126 |
Silent Mutation |
CTC,CTT |
L1379L |
XP_005253650.1 |
| XM_006719552.3 |
4126 |
Silent Mutation |
CTC,CTT |
L1368L |
XP_006719615.1 |
| XM_017019786.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1366L |
XP_016875275.1 |
| XM_017019787.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1340L |
XP_016875276.1 |
| XM_017019788.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1333L |
XP_016875277.1 |
| XM_017019789.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1333L |
XP_016875278.1 |
| XM_017019790.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1331L |
XP_016875279.1 |
| XM_017019791.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1329L |
XP_016875280.1 |
| XM_017019792.1 |
4126 |
Silent Mutation |
CTC,CTT |
L1294L |
XP_016875281.1 |
- Gene
- VPS33A
- Gene Name
- VPS33A, CORVET/HOPS core subunit
There are no transcripts associated with this gene.
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