Product Details

SNP ID

rs141805127

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:201361314 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTTGAACTTCTCCTGCAGGT[C/T]GAACTTCTCTGCCTCCAAGTTATAG

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	962	Missense Mutation	AAC,GAC	N256D	NP_000355.2
NM_001001430.2	962	Missense Mutation	AAC,GAC	N249D	NP_001001430.1
NM_001001431.2	962	Missense Mutation	AAC,GAC	N246D	NP_001001431.1
NM_001001432.2	962	Missense Mutation	AAC,GAC	N243D	NP_001001432.1
NM_001276345.1	962	Missense Mutation	AAC,GAC	N259D	NP_001263274.1
NM_001276346.1	962	Missense Mutation	AAC,GAC	N216D	NP_001263275.1
NM_001276347.1	962	Missense Mutation	AAC,GAC	N249D	NP_001263276.1
XM_006711508.3	962	Missense Mutation	AAC,GAC	N249D	XP_006711571.1
XM_006711509.3	962	Missense Mutation	AAC,GAC	N248D	XP_006711572.1
XM_011509938.2	962	Missense Mutation	AAC,GAC	N259D	XP_011508240.1
XM_011509939.1	962	Missense Mutation	AAC,GAC	N258D	XP_011508241.1
XM_011509940.2	962	Missense Mutation	AAC,GAC	N258D	XP_011508242.1
XM_011509941.2	962	Missense Mutation	AAC,GAC	N257D	XP_011508243.1
XM_011509942.2	962	Missense Mutation	AAC,GAC	N244D	XP_011508244.1
XM_011509943.2	962	Missense Mutation	AAC,GAC	N244D	XP_011508245.1
XM_011509944.2	962	Missense Mutation	AAC,GAC	N243D	XP_011508246.1
XM_011509946.1	962	Missense Mutation	AAC,GAC	N190D	XP_011508248.1
XM_017002216.1	962	Missense Mutation	AAC,GAC	N248D	XP_016857705.1
XM_017002217.1	962	Missense Mutation	AAC,GAC	N246D	XP_016857706.1

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