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ACAGGCACAGCATGGAGCTGGGAGC[C/T]GGCAGTGTCTGCAGCATAACTAGGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120120 MIM: 605320 MIM: 605902 | |||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000094.3 | 8509 | Missense Mutation | AGC,GGC | S,G 2825 | NP_000085.1 | |
XM_011533337.1 | 8509 | Missense Mutation | AGC,GGC | S,G 2825 | XP_011531639.1 | |
XM_017005688.1 | 8509 | Missense Mutation | AGC,GGC | S,G 2805 | XP_016861177.1 | |
XM_017005689.1 | 8509 | Intron | XP_016861178.1 | |||
XM_017005690.1 | 8509 | Intron | XP_016861179.1 | |||
XM_017005691.1 | 8509 | Intron | XP_016861180.1 | |||
XM_017005692.1 | 8509 | Intron | XP_016861181.1 |
PFKFB4 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | ||||||
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There are no transcripts associated with this gene. |
UCN2 - urocortin 2 | ||||||
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There are no transcripts associated with this gene. |