Product Details

SNP ID

rs138012019

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:40053902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGCTCACCCCTGAGCCACAGATA[C/G]TTGGATGTTATAACACGGTAAGAGG

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	5384	Missense Mutation	CTA,GTA	L1620V	NP_001116855.1
NM_001123384.1	5384	Missense Mutation	CTA,GTA	L1602V	NP_001116856.1
NM_001123385.1	5384	Missense Mutation	CTA,GTA	L1654V	NP_001116857.1
NM_017745.5	5384	Missense Mutation	CTA,GTA	L1620V	NP_060215.4
XM_005272616.1	5384	Missense Mutation	CTA,GTA	L1654V	XP_005272673.1
XM_005272618.3	5384	Missense Mutation	CTA,GTA	L1654V	XP_005272675.1
XM_005272619.3	5384	Missense Mutation	CTA,GTA	L1636V	XP_005272676.1
XM_005272620.3	5384	Missense Mutation	CTA,GTA	L1602V	XP_005272677.1
XM_006724536.3	5384	Missense Mutation	CTA,GTA	L1654V	XP_006724599.1
XM_011543929.2	5384	Missense Mutation	CTA,GTA	L1654V	XP_011542231.1
XM_011543930.1	5384	Missense Mutation	CTA,GTA	L1654V	XP_011542232.1
XM_011543931.2	5384	Missense Mutation	CTA,GTA	L1654V	XP_011542233.1
XM_017029615.1	5384	Missense Mutation	CTA,GTA	L1620V	XP_016885104.1
XM_017029616.1	5384	Missense Mutation	CTA,GTA	L1654V	XP_016885105.1

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