Product Details

SNP ID
rs143216272
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:49920178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGAAGAGCGAATATCCTGACTTA[C/T]TCGAGTGGTTTTGTGTGAAGACACT
Phenotype
MIM: 607144 MIM: 607171
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALG12 PubMed Links

Gene Details

Gene
ALG12
Gene Name
ALG12, alpha-1,6-mannosyltransferase
There are no transcripts associated with this gene.

Gene
CRELD2
Gene Name
cysteine rich with EGF like domains 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135101.2 486 Missense Mutation CTC,TTC L116F NP_001128573.1
NM_001284317.1 486 Missense Mutation CTC,TTC L116F NP_001271246.1
NM_001284318.1 486 Missense Mutation CTC,TTC L116F NP_001271247.1
NM_024324.4 486 Missense Mutation CTC,TTC L116F NP_077300.3
XM_005261737.2 486 Missense Mutation CTC,TTC L116F XP_005261794.1
XM_005261738.4 486 Missense Mutation CTC,TTC L116F XP_005261795.1
XM_011530372.2 486 Missense Mutation CTC,TTC L116F XP_011528674.1
XM_017028938.1 486 Missense Mutation CTC,TTC L15F XP_016884427.1

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