Product Details

SNP ID

rs149865527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:288172 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGATCTTCTCCTCAAAGACGGGCA[A/G]GACGGCCTCGTCCTCTCGAACCTCC

Phenotype

MIM: 602844 MIM: 603816 MIM: 608012

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGDIG PubMed Links

Gene Details

Gene

ARHGDIG

Gene Name

Rho GDP dissociation inhibitor gamma

There are no transcripts associated with this gene.

Gene

AXIN1

Gene Name

axin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003502.3	2939	Missense Mutation	CTG,GTG	L847V	NP_003493.1
NM_181050.2	2939	Missense Mutation	CTG,GTG	L811V	NP_851393.1
XM_011522682.2	2939	Missense Mutation	CTG,GTG	L901V	XP_011520984.1
XM_011522683.2	2939	Missense Mutation	CTG,GTG	L865V	XP_011520985.1
XM_011522684.2	2939	Missense Mutation	CTG,GTG	L852V	XP_011520986.1
XM_011522686.1	2939	Missense Mutation	CTG,GTG	L566V	XP_011520988.1
XM_017023743.1	2939	Missense Mutation	CTG,GTG	L896V	XP_016879232.1
XM_017023744.1	2939	Missense Mutation	CTG,GTG	L860V	XP_016879233.1
XM_017023745.1	2939	Missense Mutation	CTG,GTG	L567V	XP_016879234.1
XM_017023746.1	2939	Missense Mutation	CTG,GTG	L497V	XP_016879235.1
XM_017023747.1	2939	Intron			XP_016879236.1
XM_017023748.1	2939	Intron			XP_016879237.1

Gene

PDIA2

Gene Name

protein disulfide isomerase family A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006849.2	2939	Intron			NP_006840.2

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