Product Details

SNP ID
rs116599532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:157321563 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTATTGCAATTATCATCATCATCA[C/T]CATCAATTTCTTCATCCCAAACCTT
Phenotype
MIM: 610072 MIM: 615129
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERMN PubMed Links

Gene Details

Gene
ERMN
Gene Name
ermin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009959.2 696 Missense Mutation GAT,GGT D201G NP_001009959.1
NM_001304344.1 696 Missense Mutation GAT,GGT D188G NP_001291273.1
NM_001304345.1 696 Missense Mutation GAT,GGT D188G NP_001291274.1
NM_001304346.1 696 Missense Mutation GAT,GGT D168G NP_001291275.1
NM_020711.2 696 Missense Mutation GAT,GGT D188G NP_065762.1
Gene
GALNT5
Gene Name
polypeptide N-acetylgalactosaminyltransferase 5
There are no transcripts associated with this gene.

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