Product Details

SNP ID

rs191949792

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11199514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGGGCTCAGAGGTCTGCCTTTC[A/G]GAAACTTGCTCTGTTCAAGGAGTTC

Phenotype

MIM: 614194 MIM: 614610

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DOCK6 PubMed Links

Gene Details

Gene

DOCK6

Gene Name

dedicator of cytokinesis 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020812.3	6221	Nonsense Mutation	CGA,TGA	R2043*	NP_065863.2
XM_005260000.2	6221	Nonsense Mutation	CGA,TGA	R2109*	XP_005260057.1
XM_005260001.2	6221	Nonsense Mutation	CGA,TGA	R2078*	XP_005260058.1
XM_006722804.3	6221	Nonsense Mutation	CGA,TGA	R1155*	XP_006722867.1
XM_011528150.1	6221	Nonsense Mutation	CGA,TGA	R2089*	XP_011526452.1
XM_011528151.1	6221	Nonsense Mutation	CGA,TGA	R2085*	XP_011526453.1
XM_011528152.1	6221	Nonsense Mutation	CGA,TGA	R2054*	XP_011526454.1

Gene

KANK2

Gene Name

KN motif and ankyrin repeat domains 2

There are no transcripts associated with this gene.

Gene

LOC105372273

Gene Name

uncharacterized LOC105372273

There are no transcripts associated with this gene.

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