Product Details

SNP ID

rs138166132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:6576650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCTGGCCCGCGGCCAGCAGCGC[C/T]GGTTCATCGCTGTGGAGCAGGAGTT

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	248	Missense Mutation	CGG,TGG	R71W	NP_001278967.1
NM_015274.2	248	Missense Mutation	CGG,TGG	R71W	NP_056089.1

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