Product Details

SNP ID

rs6531053

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:17754513 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGAACCGAGCCGCCAGGCCGCGAC[C/T]TGGCCCCTGTTTTCCACTCGCGAGG

Phenotype

MIM: 612449 MIM: 609387

Polymorphism

C/T, 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		Intron			NP_001123481.2
NM_182625.4		Intron			NP_872431.4
XM_005262613.4		Intron			XP_005262670.1
XM_006712005.3		Intron			XP_006712068.1
XM_011532820.2		Intron			XP_011531122.1
XM_011532821.2		Intron			XP_011531123.1
XM_011532822.2		Intron			XP_011531124.1

Gene

SMC6

Gene Name

structural maintenance of chromosomes 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142286.1		Intron			NP_001135758.1
NM_024624.5		Intron			NP_078900.1
XM_011533107.2		Intron			XP_011531409.1
XM_011533108.2		Intron			XP_011531410.1
XM_017004913.1		Intron			XP_016860402.1
XM_017004914.1		Intron			XP_016860403.1
XM_017004915.1		Intron			XP_016860404.1
XM_017004916.1		Intron			XP_016860405.1

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