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- SNP ID:
- rs144258868
- Gene
-
BBIP1SHOC2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.10: 110922546 - 110922546 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
AACTCTATATGTAGATATAAGGATG[C/T]ATATTTTTGGAGGCTGAAGATTAAG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613605
MIM: 602775
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Literature Links: |
BBIP1 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
|
| BBIP1 - BBSome interacting protein 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| SHOC2 - SHOC2, leucine rich repeat scaffold protein | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001269039.2 | Intron | NP_001255968.1 | ||||
| NM_001324336.1 | Intron | NP_001311265.1 | ||||
| NM_001324337.1 | Intron | NP_001311266.1 | ||||
| NM_007373.3 | Intron | NP_031399.2 | ||||
| XM_017016702.1 | Intron | XP_016872191.1 | ||||
| XM_017016703.1 | Intron | XP_016872192.1 | ||||
| XM_017016704.1 | Intron | XP_016872193.1 | ||||
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