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- SNP ID:
- rs200688042
- Gene
-
ESYT1ZC3H10 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.12: 56130824 - 56130824 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CCAGGTCTGGCCCTTCCTGGGCCAG[C/T]ATATGGAGAAGCTTCTGGCTGAAAC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616670
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Literature Links: |
ESYT1 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 |
| ESYT1 - extended synaptotagmin 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001184796.1 | 584 | Missense Mutation | CAT,TAT | H,Y 156 | NP_001171725.1 | |
| NM_015292.2 | 584 | Missense Mutation | CAT,TAT | H,Y 156 | NP_056107.1 | |
| ZC3H10 - zinc finger CCCH-type containing 10 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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