Product Details

SNP ID

rs144081316

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47569792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGACAACCTCCAGAAGGGAGTCCA[A/G]TTTGCTCTCAAGTACCAGTCGCTGG

Phenotype

MIM: 601074 MIM: 603846 MIM: 609538

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CELF1 PubMed Links

Gene Details

Gene

CELF1

Gene Name

CUGBP, Elav-like family member 1

There are no transcripts associated with this gene.

Gene

KBTBD4

Gene Name

kelch repeat and BTB domain containing 4

There are no transcripts associated with this gene.

Gene

NDUFS3

Gene Name

NADH:ubiquinone oxidoreductase core subunit S3

There are no transcripts associated with this gene.

Gene

PTPMT1

Gene Name

protein tyrosine phosphatase, mitochondrial 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143984.1	541	Intron			NP_001137456.1
NM_175732.2	541	Silent Mutation	CAA,CAG	Q116Q	NP_783859.1

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