Product Details

SNP ID

rs200244589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35797246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCGGGGGCCAGGAGCTGCATAGG[A/C]CACAGAGAGGGCGACAAGCAGGAGG

Phenotype

MIM: 120105 MIM: 609427

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CLPS PubMed Links

Gene Details

Gene

CLPS

Gene Name

colipase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252597.1	99	UTR 5			NP_001239526.1
NM_001252598.1	99	Missense Mutation	GCC,TCC	A15S	NP_001239527.1
NM_001832.3	99	Missense Mutation	GCC,TCC	A15S	NP_001823.1

Gene

CLPSL1

Gene Name

colipase like 1

There are no transcripts associated with this gene.

Gene

LHFPL5

Gene Name

lipoma HMGIC fusion partner-like 5

There are no transcripts associated with this gene.

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