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SNP ID

rs377162265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:99222396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGCCCTTCCATGATCCCCGCCT[C/T]TCCCAGAAGCCCTGACTCCTCCTGC

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		Intron			NP_149078.1

Gene

SEC61B

Gene Name

Sec61 translocon beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006808.2		Intron			NP_006799.1

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