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ATGGCGTCCAGGTCTAAGCGGCGTG[C/T]CGTGGAAAGTGGGGTTCCGCAGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611883 MIM: 606938 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCCIP 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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BCCIP - BRCA2 and CDKN1A interacting protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016567.3 | 49 | Missense Mutation | GCC,GTC | A,V 9 | NP_057651.1 | |
NM_078468.2 | 49 | Missense Mutation | GCC,GTC | A,V 9 | NP_510868.1 | |
NM_078469.2 | 49 | Missense Mutation | GCC,GTC | A,V 9 | NP_510869.1 |
MIR4484 - microRNA 4484 | ||||||
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There are no transcripts associated with this gene. |
UROS - uroporphyrinogen III synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000375.2 | 49 | Intron | NP_000366.1 | |||
NM_001324036.1 | 49 | Intron | NP_001310965.1 | |||
NM_001324037.1 | 49 | Intron | NP_001310966.1 | |||
NM_001324038.1 | 49 | Intron | NP_001310967.1 | |||
NM_001324039.1 | 49 | Intron | NP_001310968.1 | |||
XM_005270140.4 | 49 | Intron | XP_005270197.1 | |||
XM_011540127.1 | 49 | Intron | XP_011538429.1 | |||
XM_017016610.1 | 49 | Intron | XP_016872099.1 | |||
XM_017016611.1 | 49 | Intron | XP_016872100.1 | |||
XM_017016612.1 | 49 | Intron | XP_016872101.1 |