Product Details
- SNP ID
-
rs139179400
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
13
- Location
-
Chr.1:108971493 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGAGGATGACAGGAAGGAAAGATC[C/T]TGGGTGTGCCATCTGCACTGAATCA
- Phenotype
-
MIM: 615734
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CLCC1
PubMed Links
Gene Details
- Gene
- CLCC1
- Gene Name
- chloride channel CLIC like 1
There are no transcripts associated with this gene.
- Gene
- WDR47
- Gene Name
- WD repeat domain 47
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001142550.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q907Q |
NP_001136022.1 |
| NM_001142551.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q899Q |
NP_001136023.1 |
| NM_014969.5 |
3071 |
Silent Mutation |
CAA,CAG |
Q900Q |
NP_055784.3 |
| XM_006710460.3 |
3071 |
Silent Mutation |
CAA,CAG |
Q902Q |
XP_006710523.1 |
| XM_011541027.2 |
3071 |
Silent Mutation |
CAA,CAG |
Q908Q |
XP_011539329.1 |
| XM_011541028.2 |
3071 |
Silent Mutation |
CAA,CAG |
Q901Q |
XP_011539330.1 |
| XM_011541029.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q909Q |
XP_011539331.1 |
| XM_011541030.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q902Q |
XP_011539332.1 |
| XM_011541031.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q809Q |
XP_011539333.1 |
| XM_017000696.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q906Q |
XP_016856185.1 |
| XM_017000697.1 |
3071 |
Silent Mutation |
CAA,CAG |
Q899Q |
XP_016856186.1 |
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