Product Details

SNP ID
rs139500759
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:21962796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGAGTTCCTGCTCAATGTCACCA[C/G]AGCACCAGAATTTCGTCGTTGGGAA
Phenotype
MIM: 191329
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PDZD9 PubMed Links

Gene Details

Gene
PDZD9
Gene Name
PDZ domain containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173806.3 785 Intron NP_776167.2
XM_006721029.3 785 Intron XP_006721092.1
XM_011545785.2 785 Intron XP_011544087.1
XM_017023109.1 785 Intron XP_016878598.1
XM_017023110.1 785 Intron XP_016878599.1
Gene
UQCRC2
Gene Name
ubiquinol-cytochrome c reductase core protein II
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003366.3 785 Missense Mutation ACA,AGA T142R NP_003357.2

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