Product Details
- SNP ID
-
rs150492338
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:184368186 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGCCTTCTGTTTCAGCTCTGCGTA[C/T]GTGTCCTATGGGGGCCTGCTCATGA
- Phenotype
-
MIM: 600570
MIM: 606023
MIM: 600044
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CLCN2
PubMed Links
Gene Details
- Gene
- CLCN2
- Gene Name
- chloride voltage-gated channel 2
There are no transcripts associated with this gene.
- Gene
- POLR2H
- Gene Name
- RNA polymerase II subunit H
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001278698.1 |
1206 |
Missense Mutation |
CGT,TGT |
R137C |
NP_001265627.1 |
| NM_001278699.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y79Y |
NP_001265628.1 |
| NM_001278700.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y79Y |
NP_001265629.1 |
| NM_001278714.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y87Y |
NP_001265643.1 |
| NM_001278715.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y51Y |
NP_001265644.1 |
| NM_006232.3 |
1206 |
Silent Mutation |
TAC,TAT |
Y115Y |
NP_006223.2 |
| XM_006713666.2 |
1206 |
Missense Mutation |
CGT,TGT |
R137C |
XP_006713729.1 |
| XM_006713667.2 |
1206 |
Missense Mutation |
CGT,TGT |
R137C |
XP_006713730.1 |
| XM_006713668.3 |
1206 |
Silent Mutation |
TAC,TAT |
Y115Y |
XP_006713731.1 |
| XM_006713670.2 |
1206 |
Silent Mutation |
TAC,TAT |
Y79Y |
XP_006713733.1 |
| XM_017006636.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y87Y |
XP_016862125.1 |
| XM_017006637.1 |
1206 |
Silent Mutation |
TAC,TAT |
Y51Y |
XP_016862126.1 |
- Gene
- THPO
- Gene Name
- thrombopoietin
There are no transcripts associated with this gene.
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