Product Details

SNP ID

rs2394392

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30682541 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCACCCAGTCCCTGAAGAACAGG[G/T]TGCTGACAGGGGGTAGAGGGTGGAG

Phenotype

MIM: 603405 MIM: 610990

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DHX16 PubMed Links

Gene Details

Gene

DHX16

Gene Name

DEAH-box helicase 16

There are no transcripts associated with this gene.

Gene

NRM

Gene Name

nurim (nuclear envelope membrane protein)

There are no transcripts associated with this gene.

Gene

PPP1R18

Gene Name

protein phosphatase 1 regulatory subunit 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134870.1		Intron			NP_001128342.1
NM_133471.3		Intron			NP_597728.1

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