Product Details

SNP ID

rs186781512

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6576719 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGTCGCCTCGGACCAGCAGAAA[C/T]ACCAGGTAATGAGGTCACCAGGTGA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAN2B2 PubMed Links

Gene Details

Gene

MAN2B2

Gene Name

mannosidase alpha class 2B member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001292038.1	317	Missense Mutation	CAC,TAC	H94Y	NP_001278967.1
NM_015274.2	317	Missense Mutation	CAC,TAC	H94Y	NP_056089.1

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