Product Details

SNP ID

rs141036787

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:24220091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCTCTGGGTCTGGTTCTGGCCA[C/T]GGTCTTGGAGTCCCCTCTGCACCTC

Phenotype

MIM: 137168

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GGT5 PubMed Links

Gene Details

Gene

GGT5

Gene Name

gamma-glutamyltransferase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099781.2	2053	Missense Mutation	CAT,CGT	H548R	NP_001093251.1
NM_001099782.2	2053	Missense Mutation	CAT,CGT	H515R	NP_001093252.1
NM_001302464.1	2053	UTR 3			NP_001289393.1
NM_001302465.1	2053	Missense Mutation	CAT,CGT	H471R	NP_001289394.1
NM_004121.3	2053	Missense Mutation	CAT,CGT	H547R	NP_004112.2
XM_005261557.2	2053	Missense Mutation	CAT,CGT	H579R	XP_005261614.1
XM_005261558.2	2053	Missense Mutation	CAT,CGT	H578R	XP_005261615.1
XM_011530133.1	2053	Missense Mutation	CAT,CGT	H584R	XP_011528435.1
XM_011530134.1	2053	Missense Mutation	CAT,CGT	H553R	XP_011528436.1
XM_011530135.1	2053	Missense Mutation	CAT,CGT	H552R	XP_011528437.1
XM_011530136.1	2053	UTR 3			XP_011528438.1
XM_011530137.2	2053	UTR 3			XP_011528439.1
XM_017028768.1	2053	Missense Mutation	CAT,CGT	H546R	XP_016884257.1
XM_017028769.1	2053	Missense Mutation	CAT,CGT	H521R	XP_016884258.1

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