Product Details

SNP ID

rs113588421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:40052340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACGTTTGGAAAATTGCAGCGAAA[A/T]ATGCGGGAGGACATTTTCAATTTCT

Phenotype

MIM: 300485

Polymorphism

A/T, 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	5461	Silent Mutation	ATA,ATT	I1645I	NP_001116855.1
NM_001123384.1	5461	Silent Mutation	ATA,ATT	I1627I	NP_001116856.1
NM_001123385.1	5461	Silent Mutation	ATA,ATT	I1679I	NP_001116857.1
NM_017745.5	5461	Silent Mutation	ATA,ATT	I1645I	NP_060215.4
XM_005272616.1	5461	Silent Mutation	ATA,ATT	I1679I	XP_005272673.1
XM_005272618.3	5461	Silent Mutation	ATA,ATT	I1679I	XP_005272675.1
XM_005272619.3	5461	Silent Mutation	ATA,ATT	I1661I	XP_005272676.1
XM_005272620.3	5461	Silent Mutation	ATA,ATT	I1627I	XP_005272677.1
XM_006724536.3	5461	Silent Mutation	ATA,ATT	I1679I	XP_006724599.1
XM_011543929.2	5461	Silent Mutation	ATA,ATT	I1679I	XP_011542231.1
XM_011543930.1	5461	Silent Mutation	ATA,ATT	I1679I	XP_011542232.1
XM_011543931.2	5461	Silent Mutation	ATA,ATT	I1679I	XP_011542233.1
XM_017029615.1	5461	Silent Mutation	ATA,ATT	I1645I	XP_016885104.1
XM_017029616.1	5461	UTR 3			XP_016885105.1

View Full Product Details