Product Details

SNP ID

rs28580391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:69384823 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTTCTTAAATTCTATCAATTAA[C/T]ATACACATTATTGGTAATTTCATAT

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		Intron			NP_004441.1

Gene

GALNT16

Gene Name

polypeptide N-acetylgalactosaminyltransferase 16

There are no transcripts associated with this gene.

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