Product Details

SNP ID

rs201002764

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:40052137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTAGTTGTCTGAGGCCAGATCA[C/G]TGGGGTGGAGCCACTCTACAGAGGA

Phenotype

MIM: 300485

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BCOR PubMed Links

Gene Details

Gene

BCOR

Gene Name

BCL6 corepressor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001123383.1	5664	Missense Mutation	ACT,AGT	T1713S	NP_001116855.1
NM_001123384.1	5664	Missense Mutation	ACT,AGT	T1695S	NP_001116856.1
NM_001123385.1	5664	Missense Mutation	ACT,AGT	T1747S	NP_001116857.1
NM_017745.5	5664	Missense Mutation	ACT,AGT	T1713S	NP_060215.4
XM_005272616.1	5664	Missense Mutation	ACT,AGT	T1747S	XP_005272673.1
XM_005272618.3	5664	Missense Mutation	ACT,AGT	T1747S	XP_005272675.1
XM_005272619.3	5664	Missense Mutation	ACT,AGT	T1729S	XP_005272676.1
XM_005272620.3	5664	Missense Mutation	ACT,AGT	T1695S	XP_005272677.1
XM_006724536.3	5664	Missense Mutation	ACT,AGT	T1747S	XP_006724599.1
XM_011543929.2	5664	Missense Mutation	ACT,AGT	T1747S	XP_011542231.1
XM_011543930.1	5664	Missense Mutation	ACT,AGT	T1747S	XP_011542232.1
XM_011543931.2	5664	Missense Mutation	ACT,AGT	T1747S	XP_011542233.1
XM_017029615.1	5664	Missense Mutation	ACT,AGT	T1713S	XP_016885104.1
XM_017029616.1	5664	UTR 3			XP_016885105.1

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