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GCCGCGGCCCTGAGCCAGGCGCTGC[C/G]CCTGGAGGCCCCAGAGCTTCCAGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607914 MIM: 616715 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BTBD18 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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BTBD18 - BTB domain containing 18 | ||||||
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There are no transcripts associated with this gene. |
C11orf31 - chromosome 11 open reading frame 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321335.1 | 522 | Missense Mutation | CCC,CGC | P,R 59 | NP_001308264.1 | |
NM_170746.3 | 522 | Missense Mutation | CCC,CGC | P,R 59 | NP_734467.1 |
TMX2 - thioredoxin related transmembrane protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144012.2 | 522 | Intron | NP_001137484.1 | |||
NM_015959.3 | 522 | Intron | NP_057043.1 |
TMX2-CTNND1 - TMX2-CTNND1 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |