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SNP ID

rs200282077

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:28538048 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGTGCCCCTCGCTTCTTCCTCT[C/T]TGAATTCTGCAGCTTGGTCACCAGT

Phenotype

MIM: 614812

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NUPR1 PubMed Links

Gene Details

Gene

NUPR1

Gene Name

nuclear protein 1, transcriptional regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042483.1	487	Missense Mutation	AAG,GAG	K92E	NP_001035948.1
NM_012385.2	487	Missense Mutation	AAG,GAG	K74E	NP_036517.1

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