Product Details

SNP ID

rs181918871

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18869328 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCCACAGCCGACAGGTCGAAGA[C/T]GACTGTCCACTCAGGGCAATGCCCC

Phenotype

MIM: 606919 MIM: 602880 MIM: 601430

Polymorphism

C/T, 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	1782	Intron			NP_001277194.1
NM_021267.4	1782	UTR 3			NP_067090.1
NM_198207.2	1782	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	1782	Missense Mutation	ATC,GTC	I130V	NP_001483.3

Gene

UPF1

Gene Name

UPF1, RNA helicase and ATPase

There are no transcripts associated with this gene.

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