Product Details

SNP ID

rs112146399

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:37002993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTTGGGAAATACTACAGTAATC[C/T]GTGGAGTTAAAGCAGTAAGTCTAAA

Phenotype

MIM: 604565 MIM: 606019 MIM: 613417

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALG5 PubMed Links

Gene Details

Gene

ALG5

Gene Name

ALG5, dolichyl-phosphate beta-glucosyltransferase

There are no transcripts associated with this gene.

Gene

EXOSC8

Gene Name

exosome component 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181503.2	574	Missense Mutation	CGT,TGT	R60C	NP_852480.1
XM_006719763.1	574	Missense Mutation	CGT,TGT	R97C	XP_006719826.1

Gene

SUPT20H

Gene Name

SPT20 homolog, SAGA complex component

There are no transcripts associated with this gene.

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