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TTTACAGGAAGCAGACAGGGCCAAC[A/G]TCGAAGCCGAATTCCTGGTCTGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120150 MIM: 600119 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL1A1 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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COL1A1 - collagen type I alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000088.3 | 4308 | Silent Mutation | NP_000079.2 | |||
XM_005257058.3 | 4308 | Silent Mutation | XP_005257115.2 | |||
XM_005257059.4 | 4308 | Missense Mutation | XP_005257116.2 | |||
XM_011524341.1 | 4308 | Silent Mutation | XP_011522643.1 |
SGCA - sarcoglycan alpha | ||||||
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There are no transcripts associated with this gene. |