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GAGACAAGCAGAACTTATACTCACC[G/T]CACAACCATCATACAGTGTTTTGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 120280 | ||||||||||||||||||||
Literature Links: |
COL11A1 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 |
COL11A1 - collagen type XI alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190709.1 | 5591 | Missense Mutation | NP_001177638.1 | |||
NM_001854.3 | 5591 | Missense Mutation | NP_001845.3 | |||
NM_080629.2 | 5591 | Missense Mutation | NP_542196.2 | |||
NM_080630.3 | 5591 | Missense Mutation | NP_542197.3 | |||
XM_017000334.1 | 5591 | Missense Mutation | XP_016855823.1 | |||
XM_017000335.1 | 5591 | Missense Mutation | XP_016855824.1 | |||
XM_017000336.1 | 5591 | Intron | XP_016855825.1 | |||
XM_017000337.1 | 5591 | Missense Mutation | XP_016855826.1 |