Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACAGGCCCCAGCAGCACCCCTCCC[C/T]GCCTCGGTGGGGCTCCCAGGTCTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120290 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL11A2 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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COL11A2 - collagen type XI alpha 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163771.1 | 4690 | Intron | NP_001157243.1 | |||
NM_080679.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1617 | NP_542410.2 | |
NM_080680.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1724 | NP_542411.2 | |
NM_080681.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1638 | NP_542412.2 | |
XM_011514299.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1486 | XP_011512601.1 | |
XM_011514300.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1426 | XP_011512602.1 | |
XM_011514302.2 | 4690 | Missense Mutation | CAG,CGG | Q,R 1353 | XP_011512604.1 | |
XM_017010250.1 | 4690 | Missense Mutation | CAG,CGG | Q,R 1724 | XP_016865739.1 | |
XM_017010251.1 | 4690 | Missense Mutation | CAG,CGG | Q,R 1330 | XP_016865740.1 |