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- SNP ID:
- rs147358437
- Gene
-
C17orf53 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.17: 44148689 - 44148689 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CATTCAGAGCAGCCCTCAAAATCGT[C/T]TCCCTTGTCAGCCATTCCAGTCTCC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C17orf53 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 |
| C17orf53 - chromosome 17 open reading frame 53 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001171251.2 | 977 | Missense Mutation | CTC,TTC | L,F 296 | NP_001164722.1 | |
| NM_001321310.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | NP_001308239.1 | |
| NM_001321311.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | NP_001308240.1 | |
| NM_024032.4 | 977 | Missense Mutation | CTC,TTC | L,F 296 | NP_076937.2 | |
| XM_011525187.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523489.1 | |
| XM_011525188.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523490.1 | |
| XM_011525189.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523491.1 | |
| XM_011525190.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523492.1 | |
| XM_011525191.2 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523493.1 | |
| XM_011525192.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523494.1 | |
| XM_011525193.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523495.1 | |
| XM_011525194.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523496.1 | |
| XM_011525195.1 | 977 | Missense Mutation | CTC,TTC | L,F 296 | XP_011523497.1 | |
| XM_011525197.2 | 977 | Intron | XP_011523499.1 | |||
| XM_017025031.1 | 977 | Missense Mutation | CTC,TTC | L,F 132 | XP_016880520.1 | |
| XM_017025032.1 | 977 | Missense Mutation | CTC,TTC | L,F 132 | XP_016880521.1 | |
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