Product Details

SNP ID

rs12914807

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:48878666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTGATCAGTTAGCTTTTATCGAA[A/G]AGCTTTTTTCACTGATGGTTGTCAA

Phenotype

MIM: 605894

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EID1 PubMed Links

Gene Details

Gene

EID1

Gene Name

EP300 interacting inhibitor of differentiation 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014335.2	574	Missense Mutation	AAG,GAG	K164E	NP_055150.1

Gene

SHC4

Gene Name

SHC adaptor protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203349.3	574	Intron			NP_976224.3
XM_005254375.3	574	Intron			XP_005254432.1

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