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AGAAACCGGGAAGCCCAGGAGGTCC[C/T]GGGGGTCCAGGCACTCCAGGAATTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120165 MIM: 120210 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL19A1 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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COL19A1 - collagen type XIX alpha 1 chain | ||||||
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There are no transcripts associated with this gene. |
COL9A1 - collagen type IX alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001851.4 | 2222 | Silent Mutation | CCA,CCG | P,P 892 | NP_001842.3 | |
NM_078485.3 | 2222 | Silent Mutation | CCA,CCG | P,P 649 | NP_511040.2 | |
XM_011535429.2 | 2222 | Silent Mutation | CCA,CCG | P,P 902 | XP_011533731.1 | |
XM_011535430.2 | 2222 | Silent Mutation | CCA,CCG | P,P 659 | XP_011533732.1 | |
XM_017010246.1 | 2222 | Silent Mutation | CCA,CCG | P,P 719 | XP_016865735.1 | |
XM_017010247.1 | 2222 | Silent Mutation | CCA,CCG | P,P 475 | XP_016865736.1 |