Product Details

SNP ID
rs11545982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69380556 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACACAATTATTTCCCAGCCTGTTG[G/T]GCCTGCCGACGAAGGAGCACGTAGA
Phenotype
MIM: 601191 MIM: 615132
Polymorphism
G/T, Transversion 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_004450.2 368 Silent Mutation GCA,GCC A99A 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_001168368.1 368 Intron NP_001161840.1
NM_020692.2 368 Intron NP_065743.2
XM_011537005.1 368 Intron XP_011535307.1
XM_011537006.2 368 Intron XP_011535308.1
XM_011537007.2 368 Intron XP_011535309.1
XM_017021498.1 368 Intron XP_016876987.1

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