Product Details

SNP ID

rs4253440

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50191616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGAGGAGGCCGGGGCGCCGGGC[A/G]GCGGCGCAGGCATGGCGGCGGGCTT

Phenotype

MIM: 189965

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEBPB PubMed Links

Gene Details

Gene

CEBPB

Gene Name

CCAAT/enhancer binding protein beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001285878.1	1034	Missense Mutation	AGC,GGC	S172G	NP_001272807.1
NM_001285879.1	1034	UTR 5			NP_001272808.1
NM_005194.3	1034	Missense Mutation	AGC,GGC	S195G	NP_005185.2

Gene

CEBPB-AS1

Gene Name

CEBPB antisense RNA 1

There are no transcripts associated with this gene.

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