Product Details

SNP ID
rs139034924
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:99386697 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTCCCCTTCAGAGATTGCCATCT[C/G]CCCCAACAACCATGAGGTGCATATC
Phenotype
MIM: 604223 MIM: 607075
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ARPC1B PubMed Links

Gene Details

Gene
ARPC1B
Gene Name
actin related protein 2/3 complex subunit 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005720.3 197 Missense Mutation TCC,TGC S26C NP_005711.1
XM_006715825.1 197 Missense Mutation TCC,TGC S26C XP_006715888.1
XM_006715826.1 197 Missense Mutation TCC,TGC S26C XP_006715889.1
Gene
PDAP1
Gene Name
PDGFA associated protein 1
There are no transcripts associated with this gene.

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