Product Details

SNP ID
rs202101020
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144520246 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATTCCTACTCCCAGGAAGCATG[C/T]GCTGCGGGTGCTGGACATGACGGGC
Phenotype
MIM: 615880 MIM: 603780
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP39 PubMed Links

Gene Details

Gene
ARHGAP39
Gene Name
Rho GTPase activating protein 39
There are no transcripts associated with this gene.

Gene
C8orf82
Gene Name
chromosome 8 open reading frame 82
There are no transcripts associated with this gene.

Gene
LRRC14
Gene Name
leucine rich repeat containing 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272036.1 340 Missense Mutation GCG,GTG A113V NP_001258965.1
NM_014665.3 340 Missense Mutation GCG,GTG A113V NP_055480.1
XM_005272358.4 340 Missense Mutation GCG,GTG A113V XP_005272415.1
XM_005272359.4 340 Missense Mutation GCG,GTG A113V XP_005272416.1
XM_005272360.4 340 Missense Mutation GCG,GTG A74V XP_005272417.1
XM_017014005.1 340 Missense Mutation GCG,GTG A74V XP_016869494.1
Gene
LRRC24
Gene Name
leucine rich repeat containing 24
There are no transcripts associated with this gene.

Gene
MFSD3
Gene Name
major facilitator superfamily domain containing 3
There are no transcripts associated with this gene.

Gene
RECQL4
Gene Name
RecQ like helicase 4
There are no transcripts associated with this gene.

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