Product Details

SNP ID

rs145663112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:76453321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTATTTTTCTTCATAGCATCTCA[A/G]CAGAACGCCACCGTGCTGAAGTTCG

Phenotype

MIM: 608574

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EMSY PubMed Links

Gene Details

Gene

EMSY

Gene Name

EMSY, BRCA2 interacting transcriptional repressor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300942.1	321	Missense Mutation	ACA,GCA	T60A	NP_001287871.1
NM_001300943.1	321	Missense Mutation	ACA,GCA	T60A	NP_001287872.1
NM_001300944.1	321	Missense Mutation	ACA,GCA	T60A	NP_001287873.1
NM_020193.4	321	Missense Mutation	ACA,GCA	T60A	NP_064578.2
XM_005274112.4	321	Missense Mutation	ACA,GCA	T60A	XP_005274169.1
XM_006718637.3	321	Missense Mutation	ACA,GCA	T60A	XP_006718700.1
XM_006718638.3	321	Missense Mutation	ACA,GCA	T60A	XP_006718701.1
XM_006718639.3	321	Missense Mutation	ACA,GCA	T60A	XP_006718702.1
XM_011545173.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543475.1
XM_011545174.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543476.1
XM_011545175.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543477.1
XM_011545177.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543479.1
XM_011545178.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543480.1
XM_011545179.2	321	Missense Mutation	ACA,GCA	T60A	XP_011543481.1
XM_017018021.1	321	Missense Mutation	ACA,GCA	T60A	XP_016873510.1
XM_017018022.1	321	UTR 5			XP_016873511.1

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