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- SNP ID:
- rs199960148
- Gene
-
BCAR1CTRB1LOC100506281 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.16: 75229911 - 75229911 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GAAGAGCAGCAGCTGCCGGTCCGAG[A/G]GCCCCAGGCCGCCTGTTCGCCCCGG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602941
MIM: 118890
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Literature Links: |
BCAR1 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 |
| BCAR1 - BCAR1, Cas family scaffolding protein | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001170714.1 | 2787 | Missense Mutation | CCC,CTC | P,L 784 | NP_001164185.1 | |
| NM_001170715.1 | 2787 | Missense Mutation | CCC,CTC | P,L 756 | NP_001164186.1 | |
| NM_001170716.1 | 2787 | Missense Mutation | CCC,CTC | P,L 756 | NP_001164187.1 | |
| NM_001170717.1 | 2787 | Missense Mutation | CCC,CTC | P,L 756 | NP_001164188.1 | |
| NM_001170718.1 | 2787 | Missense Mutation | CCC,CTC | P,L 738 | NP_001164189.1 | |
| NM_001170719.1 | 2787 | Missense Mutation | CCC,CTC | P,L 736 | NP_001164190.1 | |
| NM_001170720.1 | 2787 | Missense Mutation | CCC,CTC | P,L 590 | NP_001164191.1 | |
| NM_001170721.1 | 2787 | Missense Mutation | CCC,CTC | P,L 528 | NP_001164192.1 | |
| NM_014567.3 | 2787 | Missense Mutation | CCC,CTC | P,L 738 | NP_055382.2 | |
| XM_005256258.4 | 2787 | Missense Mutation | CCC,CTC | P,L 764 | XP_005256315.1 | |
| XM_005256259.4 | 2787 | Missense Mutation | CCC,CTC | P,L 738 | XP_005256316.1 | |
| XM_005256260.4 | 2787 | Missense Mutation | CCC,CTC | P,L 709 | XP_005256317.1 | |
| XM_011523475.2 | 2787 | Missense Mutation | CCC,CTC | P,L 709 | XP_011521777.1 | |
| XM_017023897.1 | 2787 | Missense Mutation | CCC,CTC | P,L 784 | XP_016879386.1 | |
| XM_017023898.1 | 2787 | Missense Mutation | CCC,CTC | P,L 754 | XP_016879387.1 | |
| XM_017023899.1 | 2787 | Missense Mutation | CCC,CTC | P,L 691 | XP_016879388.1 | |
| CTRB1 - chymotrypsinogen B1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LOC100506281 - uncharacterized LOC100506281 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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