Product Details

SNP ID

rs2272692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:27810952 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTGGGATTTATGTTAGAAATTGTAT[C/T]CATACCTTCATCATCATCATCATTT

Phenotype

MIM: 609353 MIM: 611210

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ESCO2 PubMed Links

Gene Details

Gene

ESCO2

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017420.2		Intron			NP_001017420.1
XM_011544421.2		Intron			XP_011542723.1
XM_011544422.2		Intron			XP_011542724.1

Gene

PBK

Gene Name

PDZ binding kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278945.1		Intron			NP_001265874.1
NM_018492.3		Intron			NP_060962.2
XM_006716368.2		Intron			XP_006716431.1

View Full Product Details