Product Details

SNP ID

rs200742397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56599171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGGTGGTTCCGCATAGAGAGT[C/T]GCCGCCGCTTGGAGGGGGAGAGCCC

Phenotype

MIM: 605682 MIM: 602387

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BAZ2A PubMed Links

Gene Details

Gene

BAZ2A

Gene Name

bromodomain adjacent to zinc finger domain 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300905.1	5454	Missense Mutation	CAA,CGA	Q1787R	NP_001287834.1
NM_013449.3	5454	Missense Mutation	CAA,CGA	Q1789R	NP_038477.2
XM_011537797.2	5454	Missense Mutation	CAA,CGA	Q1795R	XP_011536099.1
XM_011537798.2	5454	Missense Mutation	CAA,CGA	Q1788R	XP_011536100.1
XM_011537799.2	5454	Missense Mutation	CAA,CGA	Q1766R	XP_011536101.1
XM_011537800.2	5454	Missense Mutation	CAA,CGA	Q1815R	XP_011536102.1
XM_011537801.2	5454	Missense Mutation	CAA,CGA	Q1796R	XP_011536103.1
XM_011537803.2	5454	Missense Mutation	CAA,CGA	Q1794R	XP_011536105.1
XM_011537804.2	5454	Missense Mutation	CAA,CGA	Q1794R	XP_011536106.1
XM_011537805.2	5454	Missense Mutation	CAA,CGA	Q1794R	XP_011536107.1
XM_011537806.2	5454	Missense Mutation	CAA,CGA	Q1794R	XP_011536108.1
XM_011537807.2	5454	Missense Mutation	CAA,CGA	Q1718R	XP_011536109.1
XM_011537809.2	5454	Missense Mutation	CAA,CGA	Q1246R	XP_011536111.1
XM_017018740.1	5454	Missense Mutation	CAA,CGA	Q1794R	XP_016874229.1
XM_017018741.1	5454	Missense Mutation	CAA,CGA	Q1794R	XP_016874230.1
XM_017018742.1	5454	Missense Mutation	CAA,CGA	Q1757R	XP_016874231.1

Gene

RBMS2

Gene Name

RNA binding motif single stranded interacting protein 2

There are no transcripts associated with this gene.

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