Product Details

SNP ID

rs12192712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:139373514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTGGTTTGTCCCGTTCATCTGG[C/T]GGCCTGCAGCAGGGTGCAAATCCGG

Phenotype

MIM: 602937

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CITED2 PubMed Links

Gene Details

Gene

CITED2

Gene Name

Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168388.2	677	Missense Mutation	CAC,CGC	H144R	NP_001161860.1
NM_001168389.2	677	Missense Mutation	CAC,CGC	H149R	NP_001161861.2
NM_006079.4	677	Missense Mutation	CAC,CGC	H144R	NP_006070.2

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