Product Details

SNP ID

rs200572517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137088878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCTGTTATTCAGCTCTGGCTT[C/T]CAGGCTAGAGGAAGAGCAGAAGATG

Phenotype

MIM: 604346

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAN1B1 PubMed Links

Gene Details

Gene

MAN1B1

Gene Name

mannosidase alpha class 1B member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016219.4	388	Missense Mutation	TCC,TTC	S113F	NP_057303.2
XM_006716945.3	388	Missense Mutation	TCC,TTC	S113F	XP_006717008.1
XM_017014239.1	388	Missense Mutation	TCC,TTC	S14F	XP_016869728.1

Gene

MAN1B1-AS1

Gene Name

MAN1B1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

UAP1L1

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

There are no transcripts associated with this gene.

View Full Product Details