Product Details

SNP ID

rs200500421

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:201361337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCGAACTTCTCTGCCTCCAAGTTA[C/T]AGATGCTCTGCCACAGCTCCTTGGC

Phenotype

MIM: 191045

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TNNT2 PubMed Links

Gene Details

Gene

TNNT2

Gene Name

troponin T2, cardiac type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000364.3	939	Missense Mutation	TAT,TGT	Y248C	NP_000355.2
NM_001001430.2	939	Missense Mutation	TAT,TGT	Y241C	NP_001001430.1
NM_001001431.2	939	Missense Mutation	TAT,TGT	Y238C	NP_001001431.1
NM_001001432.2	939	Missense Mutation	TAT,TGT	Y235C	NP_001001432.1
NM_001276345.1	939	Missense Mutation	TAT,TGT	Y251C	NP_001263274.1
NM_001276346.1	939	Missense Mutation	TAT,TGT	Y208C	NP_001263275.1
NM_001276347.1	939	Missense Mutation	TAT,TGT	Y241C	NP_001263276.1
XM_006711508.3	939	Missense Mutation	TAT,TGT	Y241C	XP_006711571.1
XM_006711509.3	939	Missense Mutation	TAT,TGT	Y240C	XP_006711572.1
XM_011509938.2	939	Missense Mutation	TAT,TGT	Y251C	XP_011508240.1
XM_011509939.1	939	Missense Mutation	TAT,TGT	Y250C	XP_011508241.1
XM_011509940.2	939	Missense Mutation	TAT,TGT	Y250C	XP_011508242.1
XM_011509941.2	939	Missense Mutation	TAT,TGT	Y249C	XP_011508243.1
XM_011509942.2	939	Missense Mutation	TAT,TGT	Y236C	XP_011508244.1
XM_011509943.2	939	Missense Mutation	TAT,TGT	Y236C	XP_011508245.1
XM_011509944.2	939	Missense Mutation	TAT,TGT	Y235C	XP_011508246.1
XM_011509946.1	939	Missense Mutation	TAT,TGT	Y182C	XP_011508248.1
XM_017002216.1	939	Missense Mutation	TAT,TGT	Y240C	XP_016857705.1
XM_017002217.1	939	Missense Mutation	TAT,TGT	Y238C	XP_016857706.1

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