Product Details

SNP ID

rs76217292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137279002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCGCCTGGTGCTTTACCCGGAG[A/G]CCTCGCGCAAGTATCGGCCGCGCGT

Phenotype

MIM: 611180

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NELFB PubMed Links

Gene Details

Gene

NELFB

Gene Name

negative elongation factor complex member B

There are no transcripts associated with this gene.

Gene

TOR4A

Gene Name

torsin family 4 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017723.2	430	Missense Mutation	ACC,GCC	T105A	NP_060193.2

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