Product Details

SNP ID

rs2301195

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:108308418 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATGTAAGTTTCTTTACTGTGTGCA[A/G]TGGTCTCAAAATCTGTGGCAATACT

Phenotype

MIM: 607585

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATM PubMed Links

Gene Details

Gene

ATM

Gene Name

ATM serine/threonine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000051.3	1364	Intron			NP_000042.3
XM_005271561.4	1364	Intron			XP_005271618.2
XM_005271562.4	1364	Intron			XP_005271619.2
XM_006718843.3	1364	Intron			XP_006718906.1
XM_006718845.1	1364	Intron			XP_006718908.1
XM_011542840.2	1364	Intron			XP_011541142.1
XM_011542842.2	1364	Intron			XP_011541144.1
XM_011542843.2	1364	Intron			XP_011541145.1
XM_011542844.2	1364	Intron			XP_011541146.1
XM_011542845.1	1364	Intron			XP_011541147.1
XM_017017789.1	1364	Intron			XP_016873278.1
XM_017017790.1	1364	Intron			XP_016873279.1
XM_017017791.1	1364	Intron			XP_016873280.1
XM_017017792.1	1364	Intron			XP_016873281.1

Gene

C11orf65

Gene Name

chromosome 11 open reading frame 65

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152587.3	1364	Intron			NP_689800.3
XM_005271412.3	1364	Intron			XP_005271469.1
XM_005271413.3	1364	Intron			XP_005271470.1
XM_005271414.3	1364	Intron			XP_005271471.1
XM_005271415.4	1364	Intron			XP_005271472.1
XM_011542639.2	1364	Intron			XP_011540941.1
XM_011542640.2	1364	Intron			XP_011540942.1
XM_011542641.2	1364	Intron			XP_011540943.1
XM_011542642.1	1364	Intron			XP_011540944.1
XM_011542643.2	1364	Intron			XP_011540945.1
XM_017017246.1	1364	Intron			XP_016872735.1
XM_017017247.1	1364	Intron			XP_016872736.1
XM_017017248.1	1364	Intron			XP_016872737.1
XM_017017249.1	1364	UTR 3			XP_016872738.1
XM_017017250.1	1364	UTR 3			XP_016872739.1

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