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SNP ID

rs35830116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:21536175 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATCATTGTCAACCATCTCTCTA[A/T]TCTCGTCAACCTGCCAAATAAAGAA

Phenotype

MIM: 609674

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ESCO1 PubMed Links

Gene Details

Gene

ESCO1

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052911.2	2988	Missense Mutation	AAT,ATT	N685I	NP_443143.2
XM_011525798.1	2988	Missense Mutation	AAT,ATT	N685I	XP_011524100.1
XM_011525799.2	2988	Missense Mutation	AAT,ATT	N655I	XP_011524101.1

Gene

GREB1L

Gene Name

growth regulation by estrogen in breast cancer 1 like

There are no transcripts associated with this gene.

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