Product Details

SNP ID

rs139337094

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:99218109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCGGGTCAGGCTCACACAGAAAC[C/T]CTGTGACACTGTGGTCAATGGACTC

Phenotype

MIM: 607905 MIM: 609214

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALG2 PubMed Links

Gene Details

Gene

ALG2

Gene Name

ALG2, alpha-1,3/1,6-mannosyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033087.3	1146	Missense Mutation	GAG,GGG	E359G	NP_149078.1

Gene

SEC61B

Gene Name

Sec61 translocon beta subunit

There are no transcripts associated with this gene.

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