Product Details

SNP ID

rs141018976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137079005 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACGGGGGCCTCTACTGCGCGCTG[A/G]AGGACCACAAGATCCTGGAGGACAT

Phenotype

MIM: 604346 MIM: 612057

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MAN1B1 PubMed Links

Gene Details

Gene

MAN1B1

Gene Name

mannosidase alpha class 1B member 1

There are no transcripts associated with this gene.

Gene

MAN1B1-AS1

Gene Name

MAN1B1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

SAPCD2

Gene Name

suppressor APC domain containing 2

There are no transcripts associated with this gene.

Gene

UAP1L1

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207309.2	758	Missense Mutation	AAG,GAG	K234E	NP_997192.2
XM_006717317.3	758	Missense Mutation	AAG,GAG	K234E	XP_006717380.1
XM_011519182.2	758	Missense Mutation	AAG,GAG	K67E	XP_011517484.1

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