Product Details

SNP ID
rs149670899
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:122528578 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACCATCTATAGCTCCAGGACTC[A/G]GTGGTGGGGGAACAATATTTAACGG
Phenotype
MIM: 612065
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PARP9 PubMed Links

Gene Details

Gene
PARP9
Gene Name
poly(ADP-ribose) polymerase family member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146102.1 2573 Missense Mutation CCG,CTG P784L NP_001139574.1
NM_001146103.1 2573 Missense Mutation CCG,CTG P749L NP_001139575.1
NM_001146104.1 2573 Missense Mutation CCG,CTG P749L NP_001139576.1
NM_001146105.1 2573 Missense Mutation CCG,CTG P749L NP_001139577.1
NM_001146106.1 2573 Intron NP_001139578.1
NM_031458.2 2573 Missense Mutation CCG,CTG P784L NP_113646.2
XM_005247820.2 2573 Missense Mutation CCG,CTG P784L XP_005247877.1
XM_011513218.1 2573 Intron XP_011511520.1
XM_017007304.1 2573 Missense Mutation CCG,CTG P784L XP_016862793.1
XM_017007305.1 2573 Missense Mutation CCG,CTG P749L XP_016862794.1
XM_017007306.1 2573 Missense Mutation CCG,CTG P749L XP_016862795.1

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