Product Details

SNP ID
rs111472379
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:156924964 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGGAAGGTGGGGCTGACCGATA[A/G]GACCCTGACCACCTTCATCGAGCTC
Phenotype
MIM: 605708 MIM: 610278
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGEF11 PubMed Links

Gene Details

Gene
ARHGEF11
Gene Name
Rho guanine nucleotide exchange factor 11
There are no transcripts associated with this gene.

Gene
LRRC71
Gene Name
leucine rich repeat containing 71
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144702.2 1046 Missense Mutation AAG,AGG K181R NP_653303.2
XM_005244926.3 1046 Missense Mutation AAG,AGG K181R XP_005244983.1
XM_005244927.3 1046 Missense Mutation AAG,AGG K181R XP_005244984.1
XM_005244928.2 1046 Missense Mutation AAG,AGG K181R XP_005244985.1
XM_006711185.3 1046 Missense Mutation AAG,AGG K154R XP_006711248.1
XM_006711186.3 1046 Missense Mutation AAG,AGG K181R XP_006711249.1
XM_006711187.3 1046 Missense Mutation AAG,AGG K181R XP_006711250.1
XM_011509239.2 1046 Intron XP_011507541.1
XM_011509240.2 1046 Intron XP_011507542.1
XM_011509241.2 1046 Missense Mutation AAG,AGG K181R XP_011507543.1
XM_017000459.1 1046 Missense Mutation AAG,AGG K181R XP_016855948.1
XM_017000460.1 1046 UTR 5 XP_016855949.1
XM_017000461.1 1046 UTR 5 XP_016855950.1
XM_017000462.1 1046 UTR 5 XP_016855951.1
Gene
PEAR1
Gene Name
platelet endothelial aggregation receptor 1
There are no transcripts associated with this gene.

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