Product Details

SNP ID
rs786203339
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:23603500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAATATATTTCCATCTTTTTGTC[C/T]AGCCAGCAAATGAGAGTCTGTACCC
Phenotype
MIM: 603836 MIM: 610355
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NDUFAB1 PubMed Links

Gene Details

Gene
NDUFAB1
Gene Name
NADH:ubiquinone oxidoreductase subunit AB1
There are no transcripts associated with this gene.

Gene
PALB2
Gene Name
partner and localizer of BRCA2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024675.3 4253 Missense Mutation AGA,GGA R1174G NP_078951.2
XM_011545946.2 4253 Missense Mutation AGA,GGA R1176G XP_011544248.1
XM_011545947.2 4253 UTR 3 XP_011544249.1
XM_011545948.2 4253 Missense Mutation AGA,GGA R879G XP_011544250.1
XM_017023671.1 4253 Missense Mutation AGA,GGA R1097G XP_016879160.1
XM_017023672.1 4253 Missense Mutation AGA,GGA R1095G XP_016879161.1
XM_017023673.1 4253 UTR 3 XP_016879162.1

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