Product Details

SNP ID
rs148385769
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:24920176 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATTGTCTATATCCAGCAGGATG[C/T]GGCCAGGCACGTCTTTGCTGGCTGA
Phenotype
MIM: 608293 MIM: 610238
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARHGAP17 PubMed Links

Gene Details

Gene
ARHGAP17
Gene Name
Rho GTPase activating protein 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001006634.2 2621 Missense Mutation CAC,CGC H867R NP_001006635.1
NM_018054.5 2621 Missense Mutation CAC,CGC H789R NP_060524.4
XM_011545873.2 2621 Missense Mutation CAC,CGC H899R XP_011544175.1
XM_011545874.2 2621 Missense Mutation CAC,CGC H898R XP_011544176.1
XM_011545875.2 2621 UTR 3 XP_011544177.1
XM_011545876.2 2621 UTR 3 XP_011544178.1
XM_011545877.2 2621 Missense Mutation CAC,CGC H822R XP_011544179.1
XM_011545878.2 2621 Missense Mutation CAC,CGC H821R XP_011544180.1
XM_017023390.1 2621 UTR 3 XP_016878879.1
Gene
SLC5A11
Gene Name
solute carrier family 5 member 11
There are no transcripts associated with this gene.

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