Product Details

SNP ID
rs75705909
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:37796745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTACTCCTCTGTTTGTGGCAGG[G/T]GGCCTTCCACATCCAACCCTACAAG
Phenotype
MIM: 612276
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MANEAL PubMed Links

Gene Details

Gene
MANEAL
Gene Name
mannosidase endo-alpha like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031740.2 743 Missense Mutation GGG,GTG G221V NP_001026910.1
NM_001113482.1 743 Missense Mutation GGG,GTG G221V NP_001106954.1
NM_152496.2 743 Intron NP_689709.1
XM_005270510.3 743 Intron XP_005270567.1
XM_011540788.1 743 Intron XP_011539090.1
Gene
YRDC
Gene Name
yrdC N6-threonylcarbamoyltransferase domain containing
There are no transcripts associated with this gene.

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