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SNP ID

hCV1073606

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:108307971 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGCTTGCTGTTGTGGACTACATG[A/T]GAAGACAAAAGAGGTAATGTAATGA

Phenotype

MIM: 607585

Polymorphism

A/T, Transversion 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	6134	Nonsense Mutation	AGA,TGA	R1917*	NP_000042.3

Gene

C11orf65

Gene Name

chromosome 11 open reading frame 65

There are no transcripts associated with this gene.

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