Product Details

SNP ID

rs11965214

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.6:30679228 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GCCCGCCCTGGAGCTCTGGCTGCAG[C/G]AGCAGCAGCTCTTCCTCATCCTCTT

Phenotype

MIM: 603405 MIM: 610990

Polymorphism

C/G, 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	2004	Silent Mutation	CTC,CTG	L591L	NP_001128342.1
NM_133471.3	2004	Silent Mutation	CTC,CTG	L591L	NP_597728.1

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