Product Details

SNP ID

rs4073310

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137077767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCGGCCCCTGCCCCCAGAGCGC[G/T]TGGGCAGGGCCAGCCGCAGCGACCC

Phenotype

MIM: 604346 MIM: 612057

Polymorphism

G/T, Transversion 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	293	Missense Mutation	GTG,TTG	V79L	NP_997192.2
XM_006717317.3	293	Missense Mutation	GTG,TTG	V79L	XP_006717380.1
XM_011519182.2	293	Intron			XP_011517484.1

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