Product Details

SNP ID
rs148080695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12647239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTGACCAGGGCCCCACCTGTGT[C/T]TGTTGTCCACTTGAGCCTGGAGGCT
Phenotype
MIM: 609458
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAN2B1 PubMed Links

Gene Details

Gene
MAN2B1
Gene Name
mannosidase alpha class 2B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000528.3 2572 Missense Mutation AAC,GAC N973D NP_000519.2
NM_001173498.1 2572 Missense Mutation AAC,GAC N972D NP_001166969.1
XM_005259913.1 2572 Missense Mutation AAC,GAC N974D XP_005259970.1
XM_017026818.1 2572 Missense Mutation AAC,GAC N606D XP_016882307.1

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