Product Details

SNP ID
rs117696912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16724377 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCATTTCACAGACCATGCGGCC[A/G]ATGCCCTGGGAGGGAGACCACTTGC
Phenotype
MIM: 616250
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NWD1 PubMed Links

Gene Details

Gene
NWD1
Gene Name
NACHT and WD repeat domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007525.3 514 UTR 5 NP_001007526.3
NM_001290355.1 514 UTR 5 NP_001277284.1
XM_011527929.1 514 UTR 5 XP_011526231.1
XM_011527930.2 514 UTR 5 XP_011526232.1
XM_011527931.2 514 UTR 5 XP_011526233.1
XM_011527934.1 514 Intron XP_011526236.1
XM_011527935.1 514 UTR 5 XP_011526237.1
XM_017026669.1 514 UTR 5 XP_016882158.1

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