Product Details

SNP ID

rs199910278

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:130012607 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCTCTTTCTGATGAGGAGTCAA[C/T]GACAGGCGACTGCCAGCACTTTGGA

Phenotype

MIM: 300688

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCORL1 PubMed Links

Gene Details

Gene

BCORL1

Gene Name

BCL6 corepressor-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184772.2	661	Missense Mutation	ACG,ATG	T39M	NP_001171701.1
NM_021946.4	661	Missense Mutation	ACG,ATG	T39M	NP_068765.3
XM_005262452.4	661	Missense Mutation	ACG,ATG	T39M	XP_005262509.2
XM_005262453.4	661	Missense Mutation	ACG,ATG	T39M	XP_005262510.2
XM_005262454.3	661	Missense Mutation	ACG,ATG	T39M	XP_005262511.2
XM_005262455.4	661	Missense Mutation	ACG,ATG	T39M	XP_005262512.2
XM_005262456.4	661	Missense Mutation	ACG,ATG	T39M	XP_005262513.2
XM_006724776.3	661	Missense Mutation	ACG,ATG	T39M	XP_006724839.1
XM_006724777.3	661	Missense Mutation	ACG,ATG	T39M	XP_006724840.1
XM_006724779.2	661	UTR 5			XP_006724842.1
XM_017029721.1	661	Missense Mutation	ACG,ATG	T39M	XP_016885210.1
XM_017029722.1	661	Missense Mutation	ACG,ATG	T39M	XP_016885211.1

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