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.

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