Product Details

SNP ID

rs2275237

Assay Type

Functionally tested

NCBI dbSNP Submissions

37

Location

Chr.1:150813335 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

TTGTCCTGCAGTCTGTCCAGTCTCA[A/G]GAGCTAGAAATACAGCAAGGAAGAA

Phenotype

MIM: 126110 MIM: 601105

Polymorphism

A/G, Transition 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	2148	Missense Mutation	CCT,CTT	P690L	NP_001184254.1
NM_001286035.1	2148	Missense Mutation	CCT,CTT	P692L	NP_001272964.1
NM_001286036.1	2148	Missense Mutation	CCT,CTT	P704L	NP_001272965.1
NM_001668.3	2148	Missense Mutation	CCT,CTT	P706L	NP_001659.1
NM_178427.2	2148	Missense Mutation	CCT,CTT	P691L	NP_848514.1
XM_005245151.1	2148	Missense Mutation	CCT,CTT	P705L	XP_005245208.1
XM_005245153.1	2148	Missense Mutation	CCT,CTT	P701L	XP_005245210.1
XM_005245154.3	2148	Missense Mutation	CCT,CTT	P697L	XP_005245211.1
XM_005245157.1	2148	Missense Mutation	CCT,CTT	P669L	XP_005245214.1
XM_011509542.2	2148	Missense Mutation	CCT,CTT	P705L	XP_011507844.1
XM_011509543.2	2148	Missense Mutation	CCT,CTT	P705L	XP_011507845.1
XM_011509544.2	2148	Missense Mutation	CCT,CTT	P704L	XP_011507846.1
XM_011509545.2	2148	Missense Mutation	CCT,CTT	P690L	XP_011507847.1
XM_011509546.1	2148	Missense Mutation	CCT,CTT	P674L	XP_011507848.1
XM_011509547.2	2148	Missense Mutation	CCT,CTT	P689L	XP_011507849.1
XM_017001288.1	2148	Missense Mutation	CCT,CTT	P696L	XP_016856777.1
XM_017001289.1	2148	Missense Mutation	CCT,CTT	P692L	XP_016856778.1
XM_017001290.1	2148	Missense Mutation	CCT,CTT	P682L	XP_016856779.1
XM_017001291.1	2148	Missense Mutation	CCT,CTT	P681L	XP_016856780.1
XM_017001292.1	2148	Missense Mutation	CCT,CTT	P660L	XP_016856781.1
XM_017001293.1	2148	Missense Mutation	CCT,CTT	P644L	XP_016856782.1
XM_017001294.1	2148	Missense Mutation	CCT,CTT	P668L	XP_016856783.1
XM_017001295.1	2148	Missense Mutation	CCT,CTT	P664L	XP_016856784.1
XM_017001296.1	2148	Missense Mutation	CCT,CTT	P654L	XP_016856785.1

Gene

CTSK

Gene Name

cathepsin K

There are no transcripts associated with this gene.

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