Product Details

SNP ID
rs139586541
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44320390 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCATCGCTCCCAGAGCGACCTGG[C/T]GTTGGGTCTTTACCACGTCAAAGGG
Phenotype
MIM: 605448 MIM: 610820
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RUNDC3A PubMed Links

Gene Details

Gene
RUNDC3A
Gene Name
RUN domain containing 3A
There are no transcripts associated with this gene.

Gene
SLC25A39
Gene Name
solute carrier family 25 member 39
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143780.2 938 Missense Mutation CAC,CGC H283R NP_001137252.1
NM_001321240.1 938 Missense Mutation CAC,CGC H260R NP_001308169.1
NM_001321241.1 938 Missense Mutation CAC,CGC H281R NP_001308170.1
NM_016016.3 938 Missense Mutation CAC,CGC H275R NP_057100.1
XM_011524880.2 938 Missense Mutation CAC,CGC H289R XP_011523182.1
XM_011524882.2 938 Missense Mutation CAC,CGC H266R XP_011523184.1
XM_011524883.2 938 Missense Mutation CAC,CGC H188R XP_011523185.1
XM_011524884.1 938 Missense Mutation CAC,CGC H188R XP_011523186.1
XM_017024737.1 938 Missense Mutation CAC,CGC H182R XP_016880226.1

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