Product Details

SNP ID
rs137885656
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:42402686 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACATGAAGGGGTTCTTGACTATG[C/G]GTGAGGAGTAGAGGGGCATCTGTGT
Phenotype
MIM: 151750
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LIPE PubMed Links

Gene Details

Gene
LIPE
Gene Name
lipase E, hormone sensitive type
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005357.3 2030 Missense Mutation CCC,CGC P963R NP_005348.2
XM_005258937.3 2030 Missense Mutation CCC,CGC P887R XP_005258994.1
XM_005258938.4 2030 Missense Mutation CCC,CGC P708R XP_005258995.1
XM_005258939.3 2030 Missense Mutation CCC,CGC P725R XP_005258996.2
XM_005258940.3 2030 Missense Mutation CCC,CGC P662R XP_005258997.1
XM_006723218.2 2030 Missense Mutation CCC,CGC P662R XP_006723281.1
XM_017026810.1 2030 Missense Mutation CCC,CGC P662R XP_016882299.1
Gene
LIPE-AS1
Gene Name
LIPE antisense RNA 1
There are no transcripts associated with this gene.

Gene
LOC101930071
Gene Name
uncharacterized LOC101930071
There are no transcripts associated with this gene.

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