Product Details

SNP ID
rs201746596
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:105683175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAGTAGCAGGTTTCCCAGTATTG[C/T]TTTGTGTTGTTGAACTCAATTTTGC
Phenotype
MIM: 611355
Polymorphism
C/T, 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 1854 Intron NP_001229658.1
NM_017700.1 1854 Intron NP_060170.1
XM_006714244.3 1854 Intron XP_006714307.1
XM_011532050.2 1854 Intron XP_011530352.1
XM_011532051.2 1854 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 1854 Missense Mutation AAC,AGC N316S NP_001135943.1
NM_020395.3 1854 Missense Mutation AAC,AGC N316S NP_065128.2
XM_005263148.4 1854 Missense Mutation AAC,AGC N316S XP_005263205.1
XM_011532143.2 1854 Missense Mutation AAC,AGC N316S XP_011530445.1
XM_011532145.2 1854 Missense Mutation AAC,AGC N316S XP_011530447.1

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