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- SNP ID:
- rs200164791
- Gene
-
AP1B1MIR3653SNORD125 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.22: 29331880 - 29331880 on Build GRCh38
- Polymorphism:
- A/G, Transition Substitution
- Context Sequence [VIC/FAM]:
CTGTCTGGTTGGGGCTGAGTGGCGC[A/G]TGGACCTGGAGGGGGGCGGCGGGGG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 600157
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Literature Links: |
AP1B1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| AP1B1 - adaptor related protein complex 1 beta 1 subunit | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001127.3 | 2512 | Silent Mutation | CAC,CAT | H,H 782 | NP_001118.3 | |
| NM_001166019.1 | 2512 | Silent Mutation | CAC,CAT | H,H 755 | NP_001159491.1 | |
| NM_145730.2 | 2512 | Silent Mutation | CAC,CAT | H,H 775 | NP_663782.2 | |
| MIR3653 - microRNA 3653 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| SNORD125 - small nucleolar RNA, C/D box 125 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
Back To TopMore Information
Additional Information:
For this assay, SNP(s) [rs174765] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Panther Classification:
Gene Ontology Categories:
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