Product Details

SNP ID

rs7983986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:37003588 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGCCTGTGCTTCTTTGACTACAGT[A/C]TACCCTGTGTTATTTAACCTCAGTT

Phenotype

MIM: 604565 MIM: 606019 MIM: 613417

Polymorphism

A/C, Transversion 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		Intron			NP_852480.1
XM_006719763.1		Intron			XP_006719826.1

Gene

SUPT20H

Gene Name

SPT20 homolog, SAGA complex component

There are no transcripts associated with this gene.

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