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TCCTGTTCCAGTCGTTCAAACTGCT[C/T]CAGCTGGGGCAGGAGGGAAGCAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602941 MIM: 118890 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCAR1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BCAR1 - BCAR1, Cas family scaffolding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170714.1 | 2678 | Missense Mutation | AAG,GAG | K,E 748 | NP_001164185.1 | |
NM_001170715.1 | 2678 | Missense Mutation | AAG,GAG | K,E 720 | NP_001164186.1 | |
NM_001170716.1 | 2678 | Missense Mutation | AAG,GAG | K,E 720 | NP_001164187.1 | |
NM_001170717.1 | 2678 | Missense Mutation | AAG,GAG | K,E 720 | NP_001164188.1 | |
NM_001170718.1 | 2678 | Missense Mutation | AAG,GAG | K,E 702 | NP_001164189.1 | |
NM_001170719.1 | 2678 | Missense Mutation | AAG,GAG | K,E 700 | NP_001164190.1 | |
NM_001170720.1 | 2678 | Missense Mutation | AAG,GAG | K,E 554 | NP_001164191.1 | |
NM_001170721.1 | 2678 | Missense Mutation | AAG,GAG | K,E 492 | NP_001164192.1 | |
NM_014567.3 | 2678 | Missense Mutation | AAG,GAG | K,E 702 | NP_055382.2 | |
XM_005256258.4 | 2678 | Missense Mutation | AAG,GAG | K,E 728 | XP_005256315.1 | |
XM_005256259.4 | 2678 | Missense Mutation | AAG,GAG | K,E 702 | XP_005256316.1 | |
XM_005256260.4 | 2678 | Missense Mutation | AAG,GAG | K,E 673 | XP_005256317.1 | |
XM_011523475.2 | 2678 | Missense Mutation | AAG,GAG | K,E 673 | XP_011521777.1 | |
XM_017023897.1 | 2678 | Missense Mutation | AAG,GAG | K,E 748 | XP_016879386.1 | |
XM_017023898.1 | 2678 | Missense Mutation | AAG,GAG | K,E 718 | XP_016879387.1 | |
XM_017023899.1 | 2678 | Missense Mutation | AAG,GAG | K,E 655 | XP_016879388.1 |
CTRB1 - chymotrypsinogen B1 | ||||||
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There are no transcripts associated with this gene. |
LOC100506281 - uncharacterized LOC100506281 | ||||||
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There are no transcripts associated with this gene. |