Product Details

SNP ID
rs184119923
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69380553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAACACAATTATTTCCCAGCCTG[C/T]TGGGCCTGCCGACGAAGGAGCACGT
Phenotype
MIM: 601191 MIM: 615132
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERH PubMed Links

Gene Details

Gene
ERH
Gene Name
enhancer of rudimentary homolog (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004450.2 371 Silent Mutation CAA,CAG Q100Q NP_004441.1
Gene
GALNT16
Gene Name
polypeptide N-acetylgalactosaminyltransferase 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168368.1 371 Intron NP_001161840.1
NM_020692.2 371 Intron NP_065743.2
XM_011537005.1 371 Intron XP_011535307.1
XM_011537006.2 371 Intron XP_011535308.1
XM_011537007.2 371 Intron XP_011535309.1
XM_017021498.1 371 Intron XP_016876987.1

View Full Product Details