Product Details

SNP ID

rs8182253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:64040529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGAAAAGAATTGCCAAAGATAA[C/T]TGAATCGCATGCACACAAAACCTTA

Phenotype

MIM: 604033

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERN1 PubMed Links

Gene Details

Gene

ERN1

Gene Name

endoplasmic reticulum to nucleus signaling 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001433.3	7860	Intron			NP_001424.3
XM_017024347.1	7860	UTR 3			XP_016879836.1
XM_017024348.1	7860	Intron			XP_016879837.1

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