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SNP ID

rs201995851

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:201382305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCCACTGAGTCCTCTCGGTTG[C/T]AGATGATGCTTTCTGTGCCTCCTGA

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	1730	Missense Mutation	ACA,GCA	T499A	NP_005549.2

Gene

TNNT2

Gene Name

troponin T2, cardiac type

There are no transcripts associated with this gene.

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