Product Details

SNP ID
rs143664576
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:179837734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCTAGGTGGCAGGACAAATTGC[A/G]CCCATTTAGAGGATGTGGCTGTAAC
Phenotype
MIM: 601530
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C5orf45 PubMed Links

Gene Details

Gene
C5orf45
Gene Name
chromosome 5 open reading frame 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001017987.2 568 Missense Mutation GCG,GTG A175V NP_001017987.1
NM_016175.3 568 Missense Mutation GCG,GTG A230V NP_057259.2
Gene
SQSTM1
Gene Name
sequestosome 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142298.1 568 UTR 3 NP_001135770.1
NM_001142299.1 568 UTR 3 NP_001135771.1
NM_003900.4 568 UTR 3 NP_003891.1
XM_011534683.2 568 Intron XP_011532985.1
XM_017010010.1 568 Intron XP_016865499.1

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