Product Details

SNP ID: rs394150
Assay Type: DME
NCBI dbSNP Submissions: NA
Location: Chr.16:75529734 on Build GRCh38
Set Membership: DME Validated Inventoried
Context Sequence [VIC/FAM]: GGTCGCGCACCAGGTGCACGATGCG[C/T]AGGTTGAGCGCGGGGTCGCTGAGCA
Phenotype: MIM: 604817 MIM: 614949
Polymorphism: C/T, Transition substitution
Allele Nomenclature: CHST5 L217L
Literature Links: CHST5 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024533.4	2046	Silent Mutation	CTA,CTG	L217L	NP_078809.2

There are no transcripts associated with this gene.