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SNP ID

rs147538720

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:201382257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCCTCCCCACCATTCACCTCAG[C/T]GTCCAGCGAGGAGTCAGATTTCTGT

Phenotype

MIM: 602314 MIM: 191045

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LAD1 PubMed Links

Gene Details

Gene

LAD1

Gene Name

ladinin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005558.3	1778	Missense Mutation	ACT,GCT	T515A	NP_005549.2

Gene

TNNT2

Gene Name

troponin T2, cardiac type

There are no transcripts associated with this gene.

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