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GTCGAATAAATTGTTCTGAAAACTC[G/T]CTTCCCTGCATCAAAGTGTTAGGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610002 | ||||||||||||||||||||
Literature Links: |
COL21A1 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 |
COL21A1 - collagen type XXI alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318751.1 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | NP_001305680.1 | |
NM_001318752.1 | 2720 | Missense Mutation | AGA,AGC | R,S 783 | NP_001305681.1 | |
NM_001318753.1 | 2720 | Missense Mutation | AGA,AGC | R,S 184 | NP_001305682.1 | |
NM_001318754.1 | 2720 | Missense Mutation | AGA,AGC | R,S 143 | NP_001305683.1 | |
NM_030820.3 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | NP_110447.2 | |
XM_006715223.1 | 2720 | Missense Mutation | AGA,AGC | R,S 774 | XP_006715286.1 | |
XM_011514924.2 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | XP_011513226.1 | |
XM_011514925.2 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | XP_011513227.1 | |
XM_011514926.1 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | XP_011513228.1 | |
XM_011514927.1 | 2720 | Missense Mutation | AGA,AGC | R,S 786 | XP_011513229.1 |