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CTCTCCGTGGCACTGGTACACAGGC[A/G]CATCCTAAAGTGGGGGGGTGGGTGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120120 MIM: 191328 | |||||||||||||||||||||||
Literature Links: |
COL7A1 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 - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
COL7A1 - collagen type VII alpha 1 | ||||||
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There are no transcripts associated with this gene. |
SNORA94 - small nucleolar RNA, H/ACA box 94 | ||||||
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There are no transcripts associated with this gene. |
UQCRC1 - ubiquinol-cytochrome c reductase core protein I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003365.2 | 1177 | Missense Mutation | CGC,TGC | R,C 378 | NP_003356.2 |