Product Details

SNP ID

rs183853877

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:156582297 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGTTCCCGCTGGCCGTGGAGG[A/C]CTTCCTGCAGGCCCTGCCCCTGTGC

Phenotype

MIM: 608862

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

IQGAP3 PubMed Links

Gene Details

Gene

IQGAP3

Gene Name

IQ motif containing GTPase activating protein 3

There are no transcripts associated with this gene.

Gene

NAXE

Gene Name

NAD(P)HX epimerase

There are no transcripts associated with this gene.

Gene

TTC24

Gene Name

tetratricopeptide repeat domain 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105669.2	809	Missense Mutation	GAC,GCC	D258A	NP_001099139.2
XM_011509253.2	809	Missense Mutation	GAC,GCC	D55A	XP_011507555.1
XM_011509254.2	809	Missense Mutation	GAC,GCC	D55A	XP_011507556.1
XM_011509255.2	809	Missense Mutation	GAC,GCC	D55A	XP_011507557.1
XM_017000497.1	809	Intron			XP_016855986.1

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