Product Details

SNP ID

rs146788972

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:28572698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACATTCTTGACAGAACTTTTCCC[C/T]GTGATAACCACCGTATCTCAGCATG

Phenotype

MIM: 615254

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZBED9 PubMed Links

Gene Details

Gene

ZBED9

Gene Name

zinc finger BED-type containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052923.1	3205	Missense Mutation	CAG,CGG	Q1064R	NP_443155.1
XM_011514283.2	3205	Missense Mutation	CAG,CGG	Q913R	XP_011512585.1
XM_011514284.2	3205	Missense Mutation	CAG,CGG	Q913R	XP_011512586.1
XM_011514285.2	3205	Missense Mutation	CAG,CGG	Q913R	XP_011512587.1
XM_011514286.2	3205	Missense Mutation	CAG,CGG	Q913R	XP_011512588.1
XM_011514287.2	3205	Missense Mutation	CAG,CGG	Q913R	XP_011512589.1
XM_011514288.2	3205	Missense Mutation	CAG,CGG	Q868R	XP_011512590.1
XM_017010231.1	3205	Missense Mutation	CAG,CGG	Q913R	XP_016865720.1

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