Product Details
- SNP ID
-
rs200257444
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:7108401 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGGGTACCCGGGGGATGTCAGCTG[C/G]TGGGGTAGCTCTTGGGCCAAGAGGA
- Phenotype
-
MIM: 608974
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
C1RL
PubMed Links
Gene Details
- Gene
- C1RL
- Gene Name
- complement C1r subcomponent like
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001297640.1 |
295 |
Missense Mutation |
CAC,CAG |
H50Q |
NP_001284569.1 |
| NM_001297642.1 |
295 |
Missense Mutation |
CAC,CAG |
H50Q |
NP_001284571.1 |
| NM_001297643.1 |
295 |
Missense Mutation |
CAC,CAG |
H50Q |
NP_001284572.1 |
| NM_016546.3 |
295 |
Missense Mutation |
CAC,CAG |
H50Q |
NP_057630.2 |
| XM_017019397.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874886.1 |
| XM_017019398.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874887.1 |
| XM_017019399.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874888.1 |
| XM_017019400.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874889.1 |
| XM_017019401.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874890.1 |
| XM_017019402.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874891.1 |
| XM_017019403.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874892.1 |
| XM_017019404.1 |
295 |
Missense Mutation |
CAC,CAG |
H67Q |
XP_016874893.1 |
- Gene
- C1RL-AS1
- Gene Name
- C1RL antisense RNA 1
There are no transcripts associated with this gene.
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