Product Details

SNP ID
rs145017395
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:25617886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTTCCTCTTCCTCCTCTTCCTCT[C/T]GGGCCTGGTCACCCTGTGCTTCGGG
Phenotype
MIM: 616772
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAN1C1 PubMed Links

Gene Details

Gene
MAN1C1
Gene Name
mannosidase alpha class 1C member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289010.1 419 Missense Mutation TCG,TTG S30L NP_001275939.1
NM_020379.3 419 Missense Mutation TCG,TTG S30L NP_065112.1
XM_017001860.1 419 Intron XP_016857349.1
XM_017001861.1 419 Missense Mutation TCG,TTG S30L XP_016857350.1

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