Product Details

SNP ID

rs5751043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41106216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAAAGCTACAGTTTTAAAATTTC[A/G]TGCTTTTTAAGCATCCATTGTAAGA

Phenotype

MIM: 602700

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EP300 PubMed Links

Gene Details

Gene

EP300

Gene Name

E1A binding protein p300

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001429.3		Intron			NP_001420.2
XM_006724165.3		Intron			XP_006724228.1

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