Product Details

SNP ID

rs1127935

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30657058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATAAATGATGCCCTCAATGGTG[A/G]GTGATGTCTCAGCAATGTTCGTTGC

Phenotype

MIM: 603405

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C6orf136 PubMed Links

Gene Details

Gene

C6orf136

Gene Name

chromosome 6 open reading frame 136

There are no transcripts associated with this gene.

Gene

DHX16

Gene Name

DEAH-box helicase 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164239.1	2462	Missense Mutation	CCC,CTC	P621L	NP_001157711.1
NM_003587.4	2462	Missense Mutation	CCC,CTC	P681L	NP_003578.2
XM_011514938.2	2462	Missense Mutation	CCC,CTC	P382L	XP_011513240.1
XM_011514939.2	2462	Missense Mutation	CCC,CTC	P382L	XP_011513241.1
XM_011514940.2	2462	Missense Mutation	CCC,CTC	P200L	XP_011513242.1
XM_011514941.2	2462	Missense Mutation	CCC,CTC	P164L	XP_011513243.1

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