Product Details

SNP ID

rs2857277

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178527878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAACCCAAACAATTTGCTGTTGA[A/G]GCATAAGCAAATACATATATACATA

Phenotype

MIM: 188840

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TTN PubMed Links

Gene Details

Gene

TTN

Gene Name

titin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256850.1		Intron			NP_001243779.1
NM_001267550.2		Intron			NP_001254479.2
NM_003319.4		Intron			NP_003310.4
NM_133378.4		Intron			NP_596869.4
NM_133379.4		Intron			NP_596870.2
NM_133432.3		Intron			NP_597676.3
NM_133437.4		Intron			NP_597681.4
XM_017004819.1		Intron			XP_016860308.1
XM_017004820.1		Intron			XP_016860309.1
XM_017004821.1		Intron			XP_016860310.1
XM_017004822.1		Intron			XP_016860311.1
XM_017004823.1		Intron			XP_016860312.1

Gene

TTN-AS1

Gene Name

TTN antisense RNA 1

There are no transcripts associated with this gene.

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