Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGAGCCGACCCCCGGCTGCAGCGGC[A/C]TGGGTCCGGGCGGTGTTCGCGGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 608756 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COLGALT2 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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COLGALT2 - collagen beta(1-O)galactosyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303420.1 | 100 | Intron | NP_001290349.1 | |||
NM_001303421.1 | 100 | Intron | NP_001290350.1 | |||
NM_015101.3 | 100 | Intron | NP_055916.1 | |||
XM_011509332.2 | 100 | Intron | XP_011507634.1 | |||
XM_011509334.2 | 100 | Intron | XP_011507636.1 | |||
XM_011509335.2 | 100 | Intron | XP_011507637.1 | |||
XM_011509336.2 | 100 | Intron | XP_011507638.1 | |||
XM_011509337.2 | 100 | Intron | XP_011507639.1 | |||
XM_011509338.2 | 100 | Intron | XP_011507640.1 | |||
XM_017000750.1 | 100 | Intron | XP_016856239.1 | |||
XM_017000751.1 | 100 | Intron | XP_016856240.1 |
TSEN15 - tRNA splicing endonuclease subunit 15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127394.3 | 100 | Intron | NP_001120866.1 | |||
NM_001300764.1 | 100 | Intron | NP_001287693.1 | |||
NM_001300766.1 | 100 | Intron | NP_001287695.1 | |||
NM_052965.3 | 100 | Intron | NP_443197.1 | |||
XM_006711148.1 | 100 | Missense Mutation | ATG,CTG | M,L 16 | XP_006711211.1 | |
XM_011509139.2 | 100 | Missense Mutation | ATG,CTG | M,L 16 | XP_011507441.1 | |
XM_017000228.1 | 100 | Missense Mutation | ATG,CTG | M,L 16 | XP_016855717.1 | |
XM_017000229.1 | 100 | Missense Mutation | ATG,CTG | M,L 16 | XP_016855718.1 | |
XM_017000230.1 | 100 | Missense Mutation | ATG,CTG | M,L 16 | XP_016855719.1 |