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GATGCTGCCCCTGCGGGAGCCCGTC[A/G]TCACCCTGGAGGGCCACACCAAGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605000 MIM: 615822 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BOLA2B 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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BOLA2B - bolA family member 2B | ||||||
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There are no transcripts associated with this gene. |
CORO1A - coronin 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193333.2 | 808 | Missense Mutation | ATC,GTC | I,V 125 | NP_001180262.1 | |
NM_007074.3 | 808 | Missense Mutation | ATC,GTC | I,V 125 | NP_009005.1 | |
XM_011545714.2 | 808 | Missense Mutation | ATC,GTC | I,V 125 | XP_011544016.1 | |
XM_017022885.1 | 808 | Missense Mutation | ATC,GTC | I,V 125 | XP_016878374.1 | |
XM_017022886.1 | 808 | Missense Mutation | ATC,GTC | I,V 125 | XP_016878375.1 |
SLX1A - SLX1 homolog A, structure-specific endonuclease subunit | ||||||
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There are no transcripts associated with this gene. |
SLX1A-SULT1A3 - SLX1A-SULT1A3 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |