Product Details

SNP ID
rs199905706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35777696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGGGAGGGCTCGGTGCAGCCT[C/G]TACCCACTGCTGGGGGGCCCAGTGT
Phenotype
MIM: 614902
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP33 PubMed Links

Gene Details

Gene
ARHGAP33
Gene Name
Rho GTPase activating protein 33
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172630.1 1598 Intron NP_001166101.1
NM_052948.3 1598 Missense Mutation CTA,GTA L20V NP_443180.2
XM_005258488.1 1598 Missense Mutation CTA,GTA L20V XP_005258545.1
XM_006722999.1 1598 Missense Mutation CTA,GTA L20V XP_006723062.1
XM_006723003.2 1598 Intron XP_006723066.1
XM_011526416.1 1598 UTR 5 XP_011524718.1
XM_011526417.1 1598 UTR 5 XP_011524719.1
XM_011526418.1 1598 UTR 5 XP_011524720.1
XM_011526419.1 1598 UTR 5 XP_011524721.1
XM_011526420.1 1598 Intron XP_011524722.1
XM_011526421.2 1598 Missense Mutation CTA,GTA L57V XP_011524723.1
XM_017026238.1 1598 Missense Mutation CTA,GTA L57V XP_016881727.1
Gene
PROSER3
Gene Name
proline and serine rich 3
There are no transcripts associated with this gene.

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