Product Details

SNP ID

rs148195891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:40052243 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCAGGGTTGAAGGCTTCCAGGT[C/T]TTTGGAGCAAGAGAACAAGAGACTT

Phenotype

MIM: 300485

Polymorphism

C/T, Transition 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	5558	Missense Mutation	AAC,GAC	N1678D	NP_001116855.1
NM_001123384.1	5558	Missense Mutation	AAC,GAC	N1660D	NP_001116856.1
NM_001123385.1	5558	Missense Mutation	AAC,GAC	N1712D	NP_001116857.1
NM_017745.5	5558	Missense Mutation	AAC,GAC	N1678D	NP_060215.4
XM_005272616.1	5558	Missense Mutation	AAC,GAC	N1712D	XP_005272673.1
XM_005272618.3	5558	Missense Mutation	AAC,GAC	N1712D	XP_005272675.1
XM_005272619.3	5558	Missense Mutation	AAC,GAC	N1694D	XP_005272676.1
XM_005272620.3	5558	Missense Mutation	AAC,GAC	N1660D	XP_005272677.1
XM_006724536.3	5558	Missense Mutation	AAC,GAC	N1712D	XP_006724599.1
XM_011543929.2	5558	Missense Mutation	AAC,GAC	N1712D	XP_011542231.1
XM_011543930.1	5558	Missense Mutation	AAC,GAC	N1712D	XP_011542232.1
XM_011543931.2	5558	Missense Mutation	AAC,GAC	N1712D	XP_011542233.1
XM_017029615.1	5558	Missense Mutation	AAC,GAC	N1678D	XP_016885104.1
XM_017029616.1	5558	UTR 3			XP_016885105.1

View Full Product Details