Product Details

SNP ID
rs73968422
Assay Type
Functionally Tested
NCBI dbSNP Submissions
13
Location
Chr.2:157324315 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTATGTTAATTGTAGACTTTTAG[A/G]AAAGACCCGTTTTTGAAACATTTAC
Phenotype
MIM: 610072 MIM: 615129
Polymorphism
A/G, 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 Intron NP_001009959.1
NM_001304344.1 Intron NP_001291273.1
NM_001304345.1 Intron NP_001291274.1
NM_001304346.1 Intron NP_001291275.1
NM_020711.2 Intron NP_065762.1
Gene
GALNT5
Gene Name
polypeptide N-acetylgalactosaminyltransferase 5
There are no transcripts associated with this gene.

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