Product Details

SNP ID

rs45466197

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:201361327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTGCAGGTCGAACTTCTCTGC[A/C]TCCAAGTTATAGATGCTCTGCCACA

Phenotype

MIM: 191045

Polymorphism

A/C, Transversion 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	949	Missense Mutation	GAG,GAT	E251D	NP_000355.2
NM_001001430.2	949	Missense Mutation	GAG,GAT	E244D	NP_001001430.1
NM_001001431.2	949	Missense Mutation	GAG,GAT	E241D	NP_001001431.1
NM_001001432.2	949	Missense Mutation	GAG,GAT	E238D	NP_001001432.1
NM_001276345.1	949	Missense Mutation	GAG,GAT	E254D	NP_001263274.1
NM_001276346.1	949	Missense Mutation	GAG,GAT	E211D	NP_001263275.1
NM_001276347.1	949	Missense Mutation	GAG,GAT	E244D	NP_001263276.1
XM_006711508.3	949	Missense Mutation	GAG,GAT	E244D	XP_006711571.1
XM_006711509.3	949	Missense Mutation	GAG,GAT	E243D	XP_006711572.1
XM_011509938.2	949	Missense Mutation	GAG,GAT	E254D	XP_011508240.1
XM_011509939.1	949	Missense Mutation	GAG,GAT	E253D	XP_011508241.1
XM_011509940.2	949	Missense Mutation	GAG,GAT	E253D	XP_011508242.1
XM_011509941.2	949	Missense Mutation	GAG,GAT	E252D	XP_011508243.1
XM_011509942.2	949	Missense Mutation	GAG,GAT	E239D	XP_011508244.1
XM_011509943.2	949	Missense Mutation	GAG,GAT	E239D	XP_011508245.1
XM_011509944.2	949	Missense Mutation	GAG,GAT	E238D	XP_011508246.1
XM_011509946.1	949	Missense Mutation	GAG,GAT	E185D	XP_011508248.1
XM_017002216.1	949	Missense Mutation	GAG,GAT	E243D	XP_016857705.1
XM_017002217.1	949	Missense Mutation	GAG,GAT	E241D	XP_016857706.1

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