Product Details

SNP ID

rs11039302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47573499 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTGCCACCCAGTGAATATATGGCAT[C/T]TTTCCCGGGCACAGACACCAGGGTG

Phenotype

MIM: 601074 MIM: 603846 MIM: 609538

Polymorphism

C/T, 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318716.1	1117	Missense Mutation			NP_001305645.1
NM_001318717.1	1117	Missense Mutation			NP_001305646.1
NM_001318718.1	1117	Missense Mutation			NP_001305647.1
NM_001318719.1	1117	Missense Mutation			NP_001305648.1
NM_001318720.1	1117	Missense Mutation			NP_001305649.1
NM_001318721.1	1117	Missense Mutation			NP_001305650.1
NM_001318722.1	1117	Missense Mutation			NP_001305651.1
NM_001318723.1	1117	Missense Mutation			NP_001305652.1
NM_001318724.1	1117	Missense Mutation			NP_001305653.1
NM_001318725.1	1117	Missense Mutation			NP_001305654.1
NM_016506.6	1117	Missense Mutation			NP_057590.3
NM_018095.5	1117	Missense Mutation			NP_060565.4
XM_017018009.1	1117	Missense Mutation			XP_016873498.1

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	1117	Intron			NP_001137456.1
NM_175732.2	1117	Intron			NP_783859.1

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