Product Details

SNP ID: rs75692348
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:128833795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAAGTGCTTCTGATGTGGCACACTA[C/T]AGAAGATGGAGACAGGGATGGCCAC
Phenotype: MIM: 600547
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: KYAT1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122671.1	1347	Missense Mutation	TAT,TGT	Y385C	NP_001116143.1
NM_001122672.1	1347	Missense Mutation	TAT,TGT	Y335C	NP_001116144.1
NM_001287390.1	1347	Missense Mutation	TAT,TGT	Y479C	NP_001274319.1
NM_004059.4	1347	Missense Mutation	TAT,TGT	Y385C	NP_004050.3
XM_006717311.3	1347	Missense Mutation	TAT,TGT	Y419C	XP_006717374.1
XM_011519165.2	1347	Missense Mutation	TAT,TGT	Y478C	XP_011517467.1
XM_011519167.2	1347	Missense Mutation	TAT,TGT	Y432C	XP_011517469.2
XM_011519168.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_011517470.1
XM_011519169.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_011517471.1
XM_011519170.2	1347	Missense Mutation	TAT,TGT	Y385C	XP_011517472.1
XM_017015260.1	1347	Missense Mutation	TAT,TGT	Y492C	XP_016870749.1
XM_017015261.1	1347	Missense Mutation	TAT,TGT	Y479C	XP_016870750.1
XM_017015262.1	1347	Missense Mutation	TAT,TGT	Y479C	XP_016870751.1
XM_017015263.1	1347	Missense Mutation	TAT,TGT	Y478C	XP_016870752.1
XM_017015264.1	1347	Missense Mutation	TAT,TGT	Y419C	XP_016870753.1
XM_017015265.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_016870754.1
XM_017015266.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_016870755.1
XM_017015267.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_016870756.1
XM_017015268.1	1347	Missense Mutation	TAT,TGT	Y385C	XP_016870757.1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016390.3	1347	Intron			NP_057474.2
XM_017014804.1	1347	Intron			XP_016870293.1