Product Details
- SNP ID
-
rs200078254
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
13
- Location
-
Chr.1:150812056 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGGGGGGAAACATAGTTAGATCAG[C/G]GAATTCTTCATTGTTGTAGCTGTTG
- Phenotype
-
MIM: 126110
MIM: 601105
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ARNT
PubMed Links
Gene Details
- Gene
- ARNT
- Gene Name
- aryl hydrocarbon receptor nuclear translocator
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001197325.1 |
2366 |
Missense Mutation |
CCT,GCT |
P763A |
NP_001184254.1 |
NM_001286035.1 |
2366 |
Missense Mutation |
CCT,GCT |
P765A |
NP_001272964.1 |
NM_001286036.1 |
2366 |
Missense Mutation |
CCT,GCT |
P777A |
NP_001272965.1 |
NM_001668.3 |
2366 |
Missense Mutation |
CCT,GCT |
P779A |
NP_001659.1 |
NM_178427.2 |
2366 |
Missense Mutation |
CCT,GCT |
P764A |
NP_848514.1 |
XM_005245151.1 |
2366 |
Missense Mutation |
CCT,GCT |
P778A |
XP_005245208.1 |
XM_005245153.1 |
2366 |
Missense Mutation |
CCT,GCT |
P774A |
XP_005245210.1 |
XM_005245154.3 |
2366 |
Missense Mutation |
CCT,GCT |
P770A |
XP_005245211.1 |
XM_005245157.1 |
2366 |
Missense Mutation |
CCT,GCT |
P742A |
XP_005245214.1 |
XM_011509542.2 |
2366 |
Missense Mutation |
CCT,GCT |
P778A |
XP_011507844.1 |
XM_011509543.2 |
2366 |
Missense Mutation |
CCT,GCT |
P778A |
XP_011507845.1 |
XM_011509544.2 |
2366 |
Missense Mutation |
CCT,GCT |
P777A |
XP_011507846.1 |
XM_011509545.2 |
2366 |
Missense Mutation |
CCT,GCT |
P763A |
XP_011507847.1 |
XM_011509546.1 |
2366 |
Missense Mutation |
CCT,GCT |
P747A |
XP_011507848.1 |
XM_011509547.2 |
2366 |
Missense Mutation |
CCT,GCT |
P762A |
XP_011507849.1 |
XM_017001288.1 |
2366 |
Missense Mutation |
CCT,GCT |
P769A |
XP_016856777.1 |
XM_017001289.1 |
2366 |
Missense Mutation |
CCT,GCT |
P765A |
XP_016856778.1 |
XM_017001290.1 |
2366 |
Missense Mutation |
CCT,GCT |
P755A |
XP_016856779.1 |
XM_017001291.1 |
2366 |
Missense Mutation |
CCT,GCT |
P754A |
XP_016856780.1 |
XM_017001292.1 |
2366 |
Missense Mutation |
CCT,GCT |
P733A |
XP_016856781.1 |
XM_017001293.1 |
2366 |
Missense Mutation |
CCT,GCT |
P717A |
XP_016856782.1 |
XM_017001294.1 |
2366 |
Missense Mutation |
CCT,GCT |
P741A |
XP_016856783.1 |
XM_017001295.1 |
2366 |
Missense Mutation |
CCT,GCT |
P737A |
XP_016856784.1 |
XM_017001296.1 |
2366 |
Missense Mutation |
CCT,GCT |
P727A |
XP_016856785.1 |
- Gene
- CTSK
- Gene Name
- cathepsin K
There are no transcripts associated with this gene.
View Full Product Details