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CGAATGAGCATGGCGGCCTTCCTGA[A/G]AGAATATGCCCCACCACGAAACTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609336 MIM: 616808 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANGPTL6 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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ANGPTL6 - angiopoietin like 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321411.1 | 1593 | Missense Mutation | CTC,TTC | L,F 458 | NP_001308340.1 | |
NM_031917.2 | 1593 | Missense Mutation | CTC,TTC | L,F 458 | NP_114123.2 | |
XM_005260091.3 | 1593 | Missense Mutation | CTC,TTC | L,F 539 | XP_005260148.1 | |
XM_011528347.2 | 1593 | Missense Mutation | CTC,TTC | L,F 458 | XP_011526649.1 | |
XM_011528348.2 | 1593 | Missense Mutation | CTC,TTC | L,F 525 | XP_011526650.1 | |
XM_011528349.2 | 1593 | Missense Mutation | CTC,TTC | L,F 525 | XP_011526651.1 | |
XM_011528350.2 | 1593 | Missense Mutation | CTC,TTC | L,F 458 | XP_011526652.1 | |
XM_017027347.1 | 1593 | Missense Mutation | CTC,TTC | L,F 458 | XP_016882836.1 |
C19orf66 - chromosome 19 open reading frame 66 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308277.1 | 1593 | UTR 3 | NP_001295206.1 | |||
NM_018381.3 | 1593 | UTR 3 | NP_060851.2 | |||
XM_011528121.1 | 1593 | UTR 3 | XP_011526423.1 | |||
XM_011528122.1 | 1593 | Intron | XP_011526424.1 | |||
XM_017026934.1 | 1593 | UTR 3 | XP_016882423.1 |