Product Details

SNP ID

rs423258

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:138140098 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GTTAGAAAACAGGTTTTCCATCATC[C/T]ACTGGGTTAGCTGGTTCTCCTTCCA

Phenotype

MIM: 602848 MIM: 603575

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BRD8 PubMed Links

Gene Details

Gene

BRD8

Gene Name

bromodomain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164326.1	3787	Intron			NP_001157798.1
NM_001300961.1	3787	Intron			NP_001287890.1
NM_001300962.1	3787	Intron			NP_001287891.1
NM_001300966.1	3787	Intron			NP_001287895.1
NM_006696.3	3787	Intron			NP_006687.3
NM_139199.1	3787	Silent Mutation	GTA,GTG	V1228V	NP_631938.1
XM_005271855.2	3787	Silent Mutation	GTA,GTG	V1301V	XP_005271912.1
XM_005271856.2	3787	Silent Mutation	GTA,GTG	V1286V	XP_005271913.1
XM_005271857.2	3787	Silent Mutation	GTA,GTG	V1231V	XP_005271914.1
XM_005271859.3	3787	Silent Mutation	GTA,GTG	V1158V	XP_005271916.1
XM_005271860.3	3787	Intron			XP_005271917.1
XM_005271861.3	3787	Intron			XP_005271918.1
XM_011543109.1	3787	Silent Mutation	GTA,GTG	V1247V	XP_011541411.1
XM_011543110.1	3787	Silent Mutation	GTA,GTG	V1168V	XP_011541412.1
XM_017008969.1	3787	Silent Mutation	GTA,GTG	V1174V	XP_016864458.1
XM_017008970.1	3787	Intron			XP_016864459.1
XM_017008971.1	3787	Intron			XP_016864460.1
XM_017008972.1	3787	Intron			XP_016864461.1
XM_017008973.1	3787	Intron			XP_016864462.1
XM_017008974.1	3787	Intron			XP_016864463.1
XM_017008975.1	3787	Intron			XP_016864464.1
XM_017008976.1	3787	Intron			XP_016864465.1

Gene

NME5

Gene Name

NME/NM23 family member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003551.2	3787	Intron			NP_003542.1
XM_005272099.1	3787	Intron			XP_005272156.1
XM_006714716.3	3787	Intron			XP_006714779.1
XM_017009945.1	3787	Intron			XP_016865434.1

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