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TTCCTAGGCCTCGCCCACCTTGGGA[C/T]GGTGGGCAGGAACCCCAGTAGAACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138319 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHURC1-FNTB 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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CHURC1-FNTB - CHURC1-FNTB readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001202558.1 | 2380 | Intron | NP_001189487.1 | |||
NM_001202559.1 | 2380 | Intron | NP_001189488.1 |
GPX2 - glutathione peroxidase 2 | ||||||
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There are no transcripts associated with this gene. |
RAB15 - RAB15, member RAS oncogene family | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308154.1 | 2380 | UTR 3 | NP_001295083.1 | |||
NM_198686.2 | 2380 | UTR 3 | NP_941959.1 | |||
XM_017021277.1 | 2380 | UTR 3 | XP_016876766.1 |