Product Details

SNP ID

rs150790446

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:73981230 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATACATTTTTACACAAAATAATG[A/C]TATTTCTGAAAGTGTGCCTCTGCCT

Phenotype

MIM: 600788 MIM: 612418

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TCEB1 PubMed Links

Gene Details

Gene

TCEB1

Gene Name

transcription elongation factor B subunit 1

There are no transcripts associated with this gene.

Gene

TMEM70

Gene Name

transmembrane protein 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040613.2	546	UTR 3			NP_001035703.1
NM_017866.5	546	Missense Mutation	GAT,GCT	D131A	NP_060336.3

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