Product Details

SNP ID
rs201901389
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:117368393 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACAAACGCTTTGATTTGGGTTT[A/G]GAAGATGTGTTAATTCCACATGTAG
Phenotype
MIM: 604345
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MAN1A2 PubMed Links

Gene Details

Gene
MAN1A2
Gene Name
mannosidase alpha class 1A member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006699.3 939 Silent Mutation TTA,TTG L70L NP_006690.1
XM_006710302.2 939 Silent Mutation TTA,TTG L70L XP_006710365.1
XM_011540536.2 939 Silent Mutation TTA,TTG L70L XP_011538838.1
XM_017000115.1 939 Silent Mutation TTA,TTG L70L XP_016855604.1

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