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GGGACGAGTCAATCAACTGCTGGAC[A/G]AGGTCTGTGCTCTTTGTTGCTGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120350 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COL13A1 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
|
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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COL13A1 - collagen type XIII alpha 1 chain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130103.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_001123575.1 | |
NM_001320951.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_001307880.1 | |
NM_080798.3 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_542988.3 | |
NM_080800.3 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_542990.3 | |
NM_080801.3 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_542991.3 | |
NM_080802.3 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_542992.3 | |
NM_080805.3 | 209 | Missense Mutation | AAG,GAG | K,E 98 | NP_542995.3 | |
XM_011539292.2 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_011537594.1 | |
XM_011539293.2 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_011537595.1 | |
XM_011539294.2 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_011537596.1 | |
XM_011539295.2 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_011537597.1 | |
XM_017015676.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871165.1 | |
XM_017015677.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871166.1 | |
XM_017015678.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871167.1 | |
XM_017015679.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871168.1 | |
XM_017015680.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871169.1 | |
XM_017015681.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871170.1 | |
XM_017015682.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871171.1 | |
XM_017015683.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871172.1 | |
XM_017015684.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871173.1 | |
XM_017015685.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871174.1 | |
XM_017015686.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871175.1 | |
XM_017015687.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871176.1 | |
XM_017015688.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871177.1 | |
XM_017015689.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871178.1 | |
XM_017015690.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871179.1 | |
XM_017015691.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871180.1 | |
XM_017015692.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871181.1 | |
XM_017015693.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871182.1 | |
XM_017015694.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871183.1 | |
XM_017015695.1 | 209 | Missense Mutation | AAG,GAG | K,E 98 | XP_016871184.1 | |
XM_017015696.1 | 209 | Intron | XP_016871185.1 | |||
XM_017015697.1 | 209 | UTR 5 | XP_016871186.1 |