Product Details

SNP ID

rs144517803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56596545 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAACCATGGAGATTTCACTCCCC[C/G]ATCCACCTCACAATTTCACTCCCCC

Phenotype

MIM: 605682 MIM: 602387

Polymorphism

C/G, Transversion 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	7994	UTR 3			NP_001287834.1
NM_013449.3	7994	UTR 3			NP_038477.2
XM_011537797.2	7994	Intron			XP_011536099.1
XM_011537798.2	7994	Intron			XP_011536100.1
XM_011537799.2	7994	Intron			XP_011536101.1
XM_011537800.2	7994	Intron			XP_011536102.1
XM_011537801.2	7994	Intron			XP_011536103.1
XM_011537803.2	7994	Intron			XP_011536105.1
XM_011537804.2	7994	Intron			XP_011536106.1
XM_011537805.2	7994	Intron			XP_011536107.1
XM_011537806.2	7994	Intron			XP_011536108.1
XM_011537807.2	7994	Intron			XP_011536109.1
XM_011537809.2	7994	Intron			XP_011536111.1
XM_017018740.1	7994	Intron			XP_016874229.1
XM_017018741.1	7994	Intron			XP_016874230.1
XM_017018742.1	7994	Intron			XP_016874231.1

Gene

RBMS2

Gene Name

RNA binding motif single stranded interacting protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002898.3	7994	Intron			NP_002889.1
XM_005269059.4	7994	Intron			XP_005269116.1
XM_005269060.4	7994	Intron			XP_005269117.1
XM_005269061.3	7994	Intron			XP_005269118.1
XM_005269066.4	7994	Intron			XP_005269123.1
XM_006719541.3	7994	Intron			XP_006719604.1
XM_006719542.3	7994	Intron			XP_006719605.1
XM_006719543.3	7994	Intron			XP_006719606.1
XM_006719544.3	7994	Intron			XP_006719607.1
XM_011538637.2	7994	Intron			XP_011536939.1
XM_011538638.2	7994	Intron			XP_011536940.1
XM_011538639.2	7994	Intron			XP_011536941.1
XM_011538640.2	7994	Intron			XP_011536942.1
XM_011538642.2	7994	Intron			XP_011536944.1
XM_017019775.1	7994	Intron			XP_016875264.1
XM_017019776.1	7994	Intron			XP_016875265.1
XM_017019777.1	7994	Intron			XP_016875266.1
XM_017019778.1	7994	Intron			XP_016875267.1

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