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GCTCTCTGAGGCCGCAGGTCGGGGA[A/G]TGGTCTGGGGAGAATTCTGAGGGCG
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 |
---|---|---|
Global - Not Available | 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. |
PFKFB4 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317134.1 | 194 | Intron | NP_001304063.1 | |||
NM_001317135.1 | 194 | Intron | NP_001304064.1 | |||
NM_001317136.1 | 194 | Intron | NP_001304065.1 | |||
NM_001317137.1 | 194 | Intron | NP_001304066.1 | |||
NM_001317138.1 | 194 | Intron | NP_001304067.1 | |||
NM_004567.3 | 194 | Intron | NP_004558.1 | |||
XM_011533829.2 | 194 | Intron | XP_011532131.1 | |||
XM_017006614.1 | 194 | Intron | XP_016862103.1 | |||
XM_017006615.1 | 194 | Intron | XP_016862104.1 | |||
XM_017006616.1 | 194 | Intron | XP_016862105.1 | |||
XM_017006617.1 | 194 | Intron | XP_016862106.1 |
UCN2 - urocortin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_033199.3 | 194 | Missense Mutation | ACT,ATT | T,I 39 | NP_149976.1 |