Product Details

SNP ID

rs17855660

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:136672078 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTCTTCAATGATGAGTTTCTCTT[A/C]CTCAGGGAGTAGGACTTGTGGAATG

Phenotype

MIM: 300267

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ARHGEF6 PubMed Links

Gene Details

Gene

ARHGEF6

Gene Name

Rac/Cdc42 guanine nucleotide exchange factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306177.1	2944	Nonsense Mutation	GAA,TAA	E539*	NP_001293106.1
NM_004840.2	2944	Nonsense Mutation	GAA,TAA	E693*	NP_004831.1
XM_005262499.2	2944	Nonsense Mutation	GAA,TAA	E644*	XP_005262556.1
XM_011531412.2	2944	Nonsense Mutation	GAA,TAA	E720*	XP_011529714.1
XM_011531413.1	2944	Nonsense Mutation	GAA,TAA	E697*	XP_011529715.1
XM_011531414.1	2944	Nonsense Mutation	GAA,TAA	E690*	XP_011529716.1
XM_011531415.2	2944	Nonsense Mutation	GAA,TAA	E663*	XP_011529717.1
XM_011531416.2	2944	Nonsense Mutation	GAA,TAA	E566*	XP_011529718.1
XM_011531417.1	2944	Nonsense Mutation	GAA,TAA	E543*	XP_011529719.1
XM_017029975.1	2944	Nonsense Mutation	GAA,TAA	E724*	XP_016885464.1
XM_017029976.1	2944	Nonsense Mutation	GAA,TAA	E490*	XP_016885465.1

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