Product Details

SNP ID

rs116981436

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:179840916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCAGAGCCACCCGAGTCCTGCA[C/T]GCCACGGCTGCACGGAGGCTGGACG

Phenotype

MIM: 601530

Polymorphism

C/T, 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	372	Missense Mutation	ATG,GTG	M110V	NP_001017987.1
NM_016175.3	372	Missense Mutation	ATG,GTG	M165V	NP_057259.2

Gene

SQSTM1

Gene Name

sequestosome 1

There are no transcripts associated with this gene.

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