Product Details

SNP ID

rs281864928

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178527148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTGTCAGGTCATCTGTGTTTTCA[T/A]TGTGGAACCTCCCCTGTTCTTGACT

Phenotype

MIM: 188840

Polymorphism

T/A, Transversion 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	106958	Missense Mutation	AAT,ATT	N34306I	NP_001243779.1
NM_001267550.2	106958	Missense Mutation	AAT,ATT	N35947I	NP_001254479.2
NM_003319.4	106958	Missense Mutation	AAT,ATT	N26882I	NP_003310.4
NM_133378.4	106958	Missense Mutation	AAT,ATT	N33379I	NP_596869.4
NM_133379.4	106958	Intron			NP_596870.2
NM_133432.3	106958	Missense Mutation	AAT,ATT	N27007I	NP_597676.3
NM_133437.4	106958	Missense Mutation	AAT,ATT	N27074I	NP_597681.4
XM_017004819.1	106958	Missense Mutation	AAT,ATT	N35578I	XP_016860308.1
XM_017004820.1	106958	Missense Mutation	AAT,ATT	N34044I	XP_016860309.1
XM_017004821.1	106958	Missense Mutation	AAT,ATT	N34043I	XP_016860310.1
XM_017004822.1	106958	Missense Mutation	AAT,ATT	N33057I	XP_016860311.1
XM_017004823.1	106958	Missense Mutation	AAT,ATT	N26929I	XP_016860312.1

Gene

TTN-AS1

Gene Name

TTN antisense RNA 1

There are no transcripts associated with this gene.

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