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- SNP ID:
- rs796052392
- Gene
-
CSTB - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.21: 43774285 - 43774285 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
AAGGGCTTGTTTTCATGAGGGAGAG[A/G]TTGGAACACTCGCAGGTGTACGAAG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601145
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Literature Links: |
CSTB PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
| CSTB - cystatin B | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000100.3 | 320 | Missense Mutation | CCT,TCT | P,S 72 | NP_000091.1 | |
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