Product Details

SNP ID

rs139311823

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67004148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCCAGATGACCCTTTGGTGCTCC[G/T]GACCCAGGGGAAGGTTTCATCTGTG

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CES4A PubMed Links

Gene Details

Gene

CES4A

Gene Name

carboxylesterase 4A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190201.1	1317	Missense Mutation	CGG,CTG	R237L	NP_001177130.1
NM_001190202.1	1317	Missense Mutation	CGG,CTG	R241L	NP_001177131.1
NM_001318506.1	1317	Missense Mutation	CGG,CTG	R141L	NP_001305435.1
NM_173815.6	1317	Missense Mutation	CGG,CTG	R335L	NP_776176.5
XM_005255896.4	1317	Missense Mutation	CGG,CTG	R358L	XP_005255953.1
XM_011523021.2	1317	Missense Mutation	CGG,CTG	R402L	XP_011521323.1
XM_011523023.2	1317	Missense Mutation	CGG,CTG	R398L	XP_011521325.1
XM_011523024.2	1317	Missense Mutation	CGG,CTG	R402L	XP_011521326.1
XM_011523025.2	1317	Missense Mutation	CGG,CTG	R402L	XP_011521327.1
XM_011523026.2	1317	Missense Mutation	CGG,CTG	R362L	XP_011521328.1
XM_011523027.2	1317	Missense Mutation	CGG,CTG	R402L	XP_011521329.1
XM_011523028.2	1317	Missense Mutation	CGG,CTG	R350L	XP_011521330.1
XM_011523029.2	1317	Missense Mutation	CGG,CTG	R402L	XP_011521331.1
XM_011523030.2	1317	Missense Mutation	CGG,CTG	R358L	XP_011521332.1
XM_017023160.1	1317	Missense Mutation	CGG,CTG	R398L	XP_016878649.1
XM_017023161.1	1317	Missense Mutation	CGG,CTG	R398L	XP_016878650.1
XM_017023162.1	1317	Missense Mutation	CGG,CTG	R402L	XP_016878651.1
XM_017023163.1	1317	Missense Mutation	CGG,CTG	R402L	XP_016878652.1
XM_017023164.1	1317	Missense Mutation	CGG,CTG	R398L	XP_016878653.1
XM_017023165.1	1317	Missense Mutation	CGG,CTG	R398L	XP_016878654.1
XM_017023166.1	1317	Missense Mutation	CGG,CTG	R402L	XP_016878655.1
XM_017023167.1	1317	Missense Mutation	CGG,CTG	R237L	XP_016878656.1
XM_017023168.1	1317	Missense Mutation	CGG,CTG	R237L	XP_016878657.1

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