Product Details

SNP ID

rs149854108

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18899685 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAGCTCTGGGCCAGCCTCAGGC[A/G]CTGGGAGCGTACTGTAGCACCAGCC

Phenotype

MIM: 606919 MIM: 606942 MIM: 602880

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CERS1 PubMed Links

Gene Details

Gene

CERS1

Gene Name

ceramide synthase 1

There are no transcripts associated with this gene.

Gene

COPE

Gene Name

coatomer protein complex subunit epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007263.3	950	Silent Mutation	AGC,AGT	S307S	NP_009194.2
NM_199442.1	950	Silent Mutation	AGC,AGT	S256S	NP_955474.1
NM_199444.1	950	Silent Mutation	AGC,AGT	S255S	NP_955476.1
XM_011527655.1	950	Silent Mutation	AGC,AGT	S330S	XP_011525957.1
XM_011527656.1	950	Silent Mutation	AGC,AGT	S278S	XP_011525958.1

Gene

GDF1

Gene Name

growth differentiation factor 1

There are no transcripts associated with this gene.

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