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TCTGGACTCACCAAAGTTAGATCCA[C/T]GATTGGTGAGACTAGGGTAGGCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 126110 MIM: 601105 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARNT 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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ARNT - aryl hydrocarbon receptor nuclear translocator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001197325.1 | 2130 | Missense Mutation | CAT,CGT | H,R 684 | NP_001184254.1 | |
NM_001286035.1 | 2130 | Missense Mutation | CAT,CGT | H,R 686 | NP_001272964.1 | |
NM_001286036.1 | 2130 | Missense Mutation | CAT,CGT | H,R 698 | NP_001272965.1 | |
NM_001668.3 | 2130 | Missense Mutation | CAT,CGT | H,R 700 | NP_001659.1 | |
NM_178427.2 | 2130 | Missense Mutation | CAT,CGT | H,R 685 | NP_848514.1 | |
XM_005245151.1 | 2130 | Missense Mutation | CAT,CGT | H,R 699 | XP_005245208.1 | |
XM_005245153.1 | 2130 | Missense Mutation | CAT,CGT | H,R 695 | XP_005245210.1 | |
XM_005245154.3 | 2130 | Missense Mutation | CAT,CGT | H,R 691 | XP_005245211.1 | |
XM_005245157.1 | 2130 | Missense Mutation | CAT,CGT | H,R 663 | XP_005245214.1 | |
XM_011509542.2 | 2130 | Missense Mutation | CAT,CGT | H,R 699 | XP_011507844.1 | |
XM_011509543.2 | 2130 | Missense Mutation | CAT,CGT | H,R 699 | XP_011507845.1 | |
XM_011509544.2 | 2130 | Missense Mutation | CAT,CGT | H,R 698 | XP_011507846.1 | |
XM_011509545.2 | 2130 | Missense Mutation | CAT,CGT | H,R 684 | XP_011507847.1 | |
XM_011509546.1 | 2130 | Missense Mutation | CAT,CGT | H,R 668 | XP_011507848.1 | |
XM_011509547.2 | 2130 | Missense Mutation | CAT,CGT | H,R 683 | XP_011507849.1 | |
XM_017001288.1 | 2130 | Missense Mutation | CAT,CGT | H,R 690 | XP_016856777.1 | |
XM_017001289.1 | 2130 | Missense Mutation | CAT,CGT | H,R 686 | XP_016856778.1 | |
XM_017001290.1 | 2130 | Missense Mutation | CAT,CGT | H,R 676 | XP_016856779.1 | |
XM_017001291.1 | 2130 | Missense Mutation | CAT,CGT | H,R 675 | XP_016856780.1 | |
XM_017001292.1 | 2130 | Missense Mutation | CAT,CGT | H,R 654 | XP_016856781.1 | |
XM_017001293.1 | 2130 | Missense Mutation | CAT,CGT | H,R 638 | XP_016856782.1 | |
XM_017001294.1 | 2130 | Missense Mutation | CAT,CGT | H,R 662 | XP_016856783.1 | |
XM_017001295.1 | 2130 | Missense Mutation | CAT,CGT | H,R 658 | XP_016856784.1 | |
XM_017001296.1 | 2130 | Missense Mutation | CAT,CGT | H,R 648 | XP_016856785.1 |
CTSK - cathepsin K | ||||||
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There are no transcripts associated with this gene. |