Product Details

SNP ID

rs201720193

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133065124 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCATGGGGCCAACTTCCTCAACA[A/G]CTACCTGTATGACGGCGAGGAGATC

Phenotype

MIM: 114840 MIM: 604890

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEL PubMed Links

Gene Details

Gene

CEL

Gene Name

carboxyl ester lipase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001807.4	450	Missense Mutation	AAC,AGC	N145S	NP_001798.2

Gene

GTF3C5

Gene Name

general transcription factor IIIC subunit 5

There are no transcripts associated with this gene.

Gene

LOC100996574

Gene Name

uncharacterized LOC100996574

There are no transcripts associated with this gene.

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