Product Details

SNP ID

rs1805362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:94420160 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTCTTCTTAAAGAACTAGTGTTCA[C/T]AAAAGGATCATCATCATCATCCTGA

Phenotype

MIM: 600814

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRE11A PubMed Links

Gene Details

Gene

MRE11A

Gene Name

MRE11 homolog A, double strand break repair nuclease

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005590.3	1996	Missense Mutation	ATG,GTG	M670V	NP_005581.2
NM_005591.3	1996	Missense Mutation	ATG,GTG	M698V	NP_005582.1
XM_005274008.3	1996	Missense Mutation	ATG,GTG	M542V	XP_005274065.1
XM_006718842.3	1996	Missense Mutation	ATG,GTG	M697V	XP_006718905.1
XM_011542837.2	1996	Missense Mutation	ATG,GTG	M698V	XP_011541139.1
XM_017017772.1	1996	Missense Mutation	ATG,GTG	M698V	XP_016873261.1
XM_017017773.1	1996	Missense Mutation	ATG,GTG	M697V	XP_016873262.1

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