Product Details

SNP ID

rs199815125

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:73976409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTCTCCCGGGCGTCCTCCAGCA[A/G]CGGGCCTTCGGGGCCGGTAGCCGGC

Phenotype

MIM: 600788 MIM: 612418

Polymorphism

A/G, Transition 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	268	Missense Mutation	AAC,AGC	N43S	NP_001035703.1
NM_017866.5	268	Missense Mutation	AAC,AGC	N43S	NP_060336.3

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