Product Details

SNP ID

rs147514649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35542527 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGCCCCAGGTGCATCCTGAGCT[C/T]TACGTGGACAAGTCGCGGGGAGATA

Phenotype

MIM: 616971

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ERGIC3 PubMed Links

Gene Details

Gene

ERGIC3

Gene Name

ERGIC and golgi 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015966.2	243	Silent Mutation	CTC,CTT	L58L	NP_057050.1
NM_198398.1	243	Silent Mutation	CTC,CTT	L58L	NP_938408.1

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