Product Details

SNP ID

rs4987881

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:108223456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAGGGTTCAGATTTAACTACGCG[A/G]CTTGACTAGTCATCTTTTGATCTCT

Phenotype

MIM: 607585 MIM: 601448

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	259	Intron			NP_000042.3
XM_005271561.4	259	Intron			XP_005271618.2
XM_005271562.4	259	UTR 5			XP_005271619.2
XM_006718843.3	259	Intron			XP_006718906.1
XM_006718845.1	259	Intron			XP_006718908.1
XM_011542840.2	259	Intron			XP_011541142.1
XM_011542842.2	259	Intron			XP_011541144.1
XM_011542843.2	259	Intron			XP_011541145.1
XM_011542844.2	259	Intron			XP_011541146.1
XM_011542845.1	259	Intron			XP_011541147.1
XM_017017789.1	259	Intron			XP_016873278.1
XM_017017790.1	259	Intron			XP_016873279.1
XM_017017791.1	259	Intron			XP_016873280.1
XM_017017792.1	259	Intron			XP_016873281.1

Gene

NPAT

Gene Name

nuclear protein, coactivator of histone transcription

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321307.1	259	Intron			NP_001308236.1
NM_002519.2	259	Intron			NP_002510.2
XM_011542854.2	259	Intron			XP_011541156.1
XM_017017802.1	259	Intron			XP_016873291.1
XM_017017803.1	259	Intron			XP_016873292.1

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