Search
LOADING 
- SNP ID:
- rs775197313
- Gene
-
CSMD2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 33537543 - 33537543 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
ATGGCAGGAGAAGGAGACAGATGAC[C/G]TGTAGGAGAAGCCTCGGTCCTCTCT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 608398
|
||||||||||||||||||||
Literature Links: |
CSMD2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| CSMD2 - CUB and Sushi multiple domains 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001281956.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3233 | NP_001268885.1 | |
| NM_052896.4 | 9794 | Missense Mutation | ACG,AGG | T,R 3089 | NP_443128.2 | |
| XM_017000185.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3208 | XP_016855674.1 | |
| XM_017000186.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3208 | XP_016855675.1 | |
| XM_017000187.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3208 | XP_016855676.1 | |
| XM_017000188.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3168 | XP_016855677.1 | |
| XM_017000189.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3208 | XP_016855678.1 | |
| XM_017000190.1 | 9794 | Missense Mutation | ACG,AGG | T,R 2963 | XP_016855679.1 | |
| XM_017000191.1 | 9794 | Intron | XP_016855680.1 | |||
| XM_017000192.1 | 9794 | Intron | XP_016855681.1 | |||
| XM_017000193.1 | 9794 | Intron | XP_016855682.1 | |||
| XM_017000194.1 | 9794 | Missense Mutation | ACG,AGG | T,R 3168 | XP_016855683.1 | |
Back To Top