Product Details

SNP ID
rs184986813
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:105683070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTACAGTGGGCGTAGTGCTGTTA[C/T]TGGAACCTATTTTGGAACCTATTCC
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 1959 Intron NP_001229658.1
NM_017700.1 1959 Intron NP_060170.1
XM_006714244.3 1959 Intron XP_006714307.1
XM_011532050.2 1959 Intron XP_011530352.1
XM_011532051.2 1959 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 1959 Missense Mutation AAT,AGT N351S NP_001135943.1
NM_020395.3 1959 Missense Mutation AAT,AGT N351S NP_065128.2
XM_005263148.4 1959 Missense Mutation AAT,AGT N351S XP_005263205.1
XM_011532143.2 1959 Missense Mutation AAT,AGT N351S XP_011530445.1
XM_011532145.2 1959 Missense Mutation AAT,AGT N351S XP_011530447.1

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