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AGGTTACAGAGCAAATTGTCTTCTC[C/T]TTCCTCCATTCCCTTATTTGGAGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605882 MIM: 611346 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BRIP1 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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BRIP1 - BRCA1 interacting protein C-terminal helicase 1 | ||||||
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There are no transcripts associated with this gene. |
INTS2 - integrator complex subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020748.2 | 3027 | Missense Mutation | AGA,GGA | R,G 982 | NP_065799.1 | |
XM_006721987.3 | 3027 | Missense Mutation | AGA,GGA | R,G 974 | XP_006722050.1 | |
XM_011525058.2 | 3027 | Missense Mutation | AGA,GGA | R,G 974 | XP_011523360.1 |