Product Details

SNP ID

rs147614165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:105683151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCACAGGTTTCTGGTTAGCTGAC[A/G]AAGTAGCAGGTTTCCCAGTATTGTT

Phenotype

MIM: 611355

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARHGEF38 PubMed Links

Gene Details

Gene

ARHGEF38

Gene Name

Rho guanine nucleotide exchange factor 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242729.1	1878	Intron			NP_001229658.1
NM_017700.1	1878	Intron			NP_060170.1
XM_006714244.3	1878	Intron			XP_006714307.1
XM_011532050.2	1878	Intron			XP_011530352.1
XM_011532051.2	1878	Intron			XP_011530353.1

Gene

INTS12

Gene Name

integrator complex subunit 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142471.1	1878	Missense Mutation	TCG,TTG	S324L	NP_001135943.1
NM_020395.3	1878	Missense Mutation	TCG,TTG	S324L	NP_065128.2
XM_005263148.4	1878	Missense Mutation	TCG,TTG	S324L	XP_005263205.1
XM_011532143.2	1878	Missense Mutation	TCG,TTG	S324L	XP_011530445.1
XM_011532145.2	1878	Missense Mutation	TCG,TTG	S324L	XP_011530447.1

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