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SNP ID: rs121434423
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:18868916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTCACGTACAGCCGCCGCGCGCGA[T/C]AAGCGCCCCCGGGGCCGCCGCCCAA
Phenotype: MIM: 606919 MIM: 602880 MIM: 601430
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: CERS1 PubMed Links

Gene Details

Gene: CERS1
Gene Name: ceramide synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290265.1	2194	Intron			NP_001277194.1
NM_021267.4	2194	UTR 3			NP_067090.1
NM_198207.2	2194	Intron			NP_937850.1

Gene: GDF1
Gene Name: growth differentiation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001492.5	2194	Missense Mutation	TAT,TGT	Y267C	NP_001483.3

Gene: UPF1
Gene Name: UPF1, RNA helicase and ATPase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297549.1	2194	Intron			NP_001284478.1
NM_002911.3	2194	Intron			NP_002902.2
XM_017027105.1	2194	Intron			XP_016882594.1
XM_017027106.1	2194	Intron			XP_016882595.1

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