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SNP ID

rs141837989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:17761430 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCGTATCTCATATTTAACACAA[A/G]TGGATGTAAAACTGGTATTTGTTAT

Phenotype

MIM: 612449 MIM: 609387

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GEN1 PubMed Links

Gene Details

Gene

GEN1

Gene Name

GEN1, Holliday junction 5' flap endonuclease

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130009.2	294	Missense Mutation	ATG,GTG	M66V	NP_001123481.2
NM_182625.4	294	Missense Mutation	ATG,GTG	M66V	NP_872431.4
XM_005262613.4	294	Missense Mutation	ATG,GTG	M66V	XP_005262670.1
XM_006712005.3	294	Missense Mutation	ATG,GTG	M66V	XP_006712068.1
XM_011532820.2	294	Missense Mutation	ATG,GTG	M66V	XP_011531122.1
XM_011532821.2	294	Missense Mutation	ATG,GTG	M66V	XP_011531123.1
XM_011532822.2	294	Missense Mutation	ATG,GTG	M66V	XP_011531124.1

Gene

SMC6

Gene Name

structural maintenance of chromosomes 6

There are no transcripts associated with this gene.

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