Product Details

SNP ID
rs146187482
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:161072806 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTCCTCGGCCCGCCCAGAGCCT[C/G]GAGACAGCAGTTCAGTCTGTGTTTC
Phenotype
MIM: 614264 MIM: 609607
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ARHGAP30 PubMed Links

Gene Details

Gene
ARHGAP30
Gene Name
Rho GTPase activating protein 30
There are no transcripts associated with this gene.

Gene
NECTIN4
Gene Name
nectin cell adhesion molecule 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030916.2 1583 Missense Mutation CCA,CGA P463R NP_112178.2
XM_005245508.3 1583 Missense Mutation CCA,CGA P438R XP_005245565.1
XM_011510021.2 1583 Missense Mutation CCA,CGA P464R XP_011508323.1
XM_011510022.2 1583 Missense Mutation CCA,CGA P439R XP_011508324.1
XM_011510023.1 1583 UTR 3 XP_011508325.1

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