Product Details

SNP ID

rs12743386

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:203866216 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAAAAAGGCAACATCTTAGAGATT[C/T]TAAGGATTTTAGGAGTTGTATGGGA

Phenotype

MIM: 128260

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SNRPE PubMed Links

Gene Details

Gene

SNRPE

Gene Name

small nuclear ribonucleoprotein polypeptide E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304464.1		Intron			NP_001291393.1
NM_003094.3		Intron			NP_003085.1

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