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- SNP ID:
- rs139079107
- Gene
-
AIPL1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.17: 6425507 - 6425507 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GGGGACGGGGGTGGCTCTGTGGCTG[A/G]CTCTGCAGGGGGCCCTGCGGACAGC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604392
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Literature Links: |
AIPL1 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 |
| AIPL1 - aryl hydrocarbon receptor interacting protein like 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001033054.2 | 1131 | Missense Mutation | CCA,TCA | P,S 307 | NP_001028226.1 | |
| NM_001033055.2 | 1131 | Missense Mutation | CCA,TCA | P,S 310 | NP_001028227.1 | |
| NM_001285399.2 | 1131 | Missense Mutation | CCA,TCA | P,S 358 | NP_001272328.1 | |
| NM_001285400.2 | 1131 | Missense Mutation | CCA,TCA | P,S 348 | NP_001272329.1 | |
| NM_001285401.2 | 1131 | Missense Mutation | CCA,TCA | P,S 346 | NP_001272330.1 | |
| NM_001285402.1 | 1131 | Missense Mutation | CCA,TCA | P,S 331 | NP_001272331.1 | |
| NM_001285403.2 | 1131 | Intron | NP_001272332.1 | |||
| NM_014336.4 | 1131 | Missense Mutation | CCA,TCA | P,S 370 | NP_055151.3 | |
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