Product Details

SNP ID
rs148261863
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:146084518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTGAGTTCCCGGGCCACCTGGC[A/G]GATGGAAAAAGCCCAACAGCAGTGC
Phenotype
MIM: 613377
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLAC8L1 PubMed Links

Gene Details

Gene
PLAC8L1
Gene Name
PLAC8 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001029869.1 589 Missense Mutation CGC,TGC R150C NP_001025040.1
XM_005268381.3 589 Missense Mutation CGC,TGC R130C XP_005268438.1
XM_011537571.2 589 Missense Mutation CGC,TGC R123C XP_011535873.1
XM_017009137.1 589 Missense Mutation CGC,TGC R123C XP_016864626.1
Gene
SH3RF2
Gene Name
SH3 domain containing ring finger 2
There are no transcripts associated with this gene.

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