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TCCTCGGATACCTGAGTTTCCAGGA[C/T]GGCCAGGGGGGCCAGGGGGACCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120320 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL12A1 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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COL12A1 - collagen type XII alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004370.5 | 9120 | Missense Mutation | CAT,CGT | H,R 3028 | NP_004361.3 | |
NM_080645.2 | 9120 | Missense Mutation | CAT,CGT | H,R 1864 | NP_542376.2 | |
XM_011535434.1 | 9120 | Missense Mutation | CAT,CGT | H,R 3028 | XP_011533736.1 | |
XM_011535435.1 | 9120 | Missense Mutation | CAT,CGT | H,R 2937 | XP_011533737.1 | |
XM_011535436.2 | 9120 | Missense Mutation | CAT,CGT | H,R 1864 | XP_011533738.1 | |
XM_017010252.1 | 9120 | Missense Mutation | CAT,CGT | H,R 3016 | XP_016865741.1 |