Product Details

SNP ID

rs141116063

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:27810465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTAGTTCCCAACGCTGCATAGTAT[C/G]CTTCATCATCAAAATCACTTTCATC

Phenotype

MIM: 609353 MIM: 611210

Polymorphism

C/G, Transversion 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	1248	Intron			NP_001017420.1
XM_011544421.2	1248	Intron			XP_011542723.1
XM_011544422.2	1248	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	1248	Missense Mutation	GCA,GGA	A281G	NP_001265874.1
NM_018492.3	1248	Missense Mutation	GCA,GGA	A270G	NP_060962.2
XM_006716368.2	1248	Missense Mutation	GCA,GGA	A270G	XP_006716431.1

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