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- SNP ID:
- rs777816274
- Gene
-
ALS2CLTMIE - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 46685576 - 46685576 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
AGAGCAGCACACGCTCAGCCCGCAA[C/T]GGTGCGACCGTCACGGGTACGTCCT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612402
MIM: 607237
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Literature Links: |
ALS2CL 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 |
| ALS2CL - ALS2 C-terminal like | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001190707.1 | 811 | Silent Mutation | CCA,CCG | P,P 245 | NP_001177636.1 | |
| NM_147129.4 | 811 | Silent Mutation | CCA,CCG | P,P 245 | NP_667340.2 | |
| XM_005265025.1 | 811 | Intron | XP_005265082.1 | |||
| XM_006713091.2 | 811 | Silent Mutation | CCA,CCG | P,P 245 | XP_006713154.1 | |
| XM_006713093.3 | 811 | Silent Mutation | CCA,CCG | P,P 245 | XP_006713156.1 | |
| XM_006713094.3 | 811 | Silent Mutation | CCA,CCG | P,P 245 | XP_006713157.1 | |
| XM_011533572.2 | 811 | Silent Mutation | CCA,CCG | P,P 245 | XP_011531874.1 | |
| XM_017006120.1 | 811 | Silent Mutation | CCA,CCG | P,P 245 | XP_016861609.1 | |
| TMIE - transmembrane inner ear | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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