Product Details

SNP ID
rs200765433
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44320267 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCAGCCAGGTGGAGTCCACATGC[A/G]GGGGGTTCACTGCAAACGCGAGGCC
Phenotype
MIM: 605448 MIM: 610820
Polymorphism
A/G, 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_001143780.2 983 Missense Mutation CCG,CTG P298L NP_001137252.1
NM_001321240.1 983 Missense Mutation CCG,CTG P275L NP_001308169.1
NM_001321241.1 983 Missense Mutation CCG,CTG P296L NP_001308170.1
NM_016016.3 983 Missense Mutation CCG,CTG P290L NP_057100.1
XM_011524880.2 983 Missense Mutation CCG,CTG P304L XP_011523182.1
XM_011524882.2 983 Missense Mutation CCG,CTG P281L XP_011523184.1
XM_011524883.2 983 Missense Mutation CCG,CTG P203L XP_011523185.1
XM_011524884.1 983 Missense Mutation CCG,CTG P203L XP_011523186.1
XM_017024737.1 983 Missense Mutation CCG,CTG P197L XP_016880226.1

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