Product Details

SNP ID

rs114778877

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35795240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTCTCCCTCACAGGTCAGGCCA[C/T]GCTCACAGGGACACTTGTAGTAAAT

Phenotype

MIM: 120105

Polymorphism

C/T, Transition 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	399	Missense Mutation	CAT,CGT	H68R	NP_001239526.1
NM_001252598.1	399	Missense Mutation	CAT,CGT	H41R	NP_001239527.1
NM_001832.3	399	Missense Mutation	CAT,CGT	H82R	NP_001823.1

Gene

CLPSL1

Gene Name

colipase like 1

There are no transcripts associated with this gene.

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