Product Details

SNP ID

rs201713364

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:139373207 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCAAACTCGTTTTGCCCCAGCCA[A/G]AGTTCGGGCAGCTCCTTGATGCGGT

Phenotype

MIM: 602937

Polymorphism

A/G, 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	984	Silent Mutation	CTC,CTT	L246L	NP_001161860.1
NM_001168389.2	984	Silent Mutation	CTC,CTT	L251L	NP_001161861.2
NM_006079.4	984	Silent Mutation	CTC,CTT	L246L	NP_006070.2

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