Product Details

SNP ID

rs281864931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178527151 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCAGGTCATCTGTGTTTTCAATG[T/G]GGAACCTCCCCTGTTCTTGACTGTG

Phenotype

MIM: 188840

Polymorphism

T/G, 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	106955	Missense Mutation	CAC,CCC	H34305P	NP_001243779.1
NM_001267550.2	106955	Missense Mutation	CAC,CCC	H35946P	NP_001254479.2
NM_003319.4	106955	Missense Mutation	CAC,CCC	H26881P	NP_003310.4
NM_133378.4	106955	Missense Mutation	CAC,CCC	H33378P	NP_596869.4
NM_133379.4	106955	Intron			NP_596870.2
NM_133432.3	106955	Missense Mutation	CAC,CCC	H27006P	NP_597676.3
NM_133437.4	106955	Missense Mutation	CAC,CCC	H27073P	NP_597681.4
XM_017004819.1	106955	Missense Mutation	CAC,CCC	H35577P	XP_016860308.1
XM_017004820.1	106955	Missense Mutation	CAC,CCC	H34043P	XP_016860309.1
XM_017004821.1	106955	Missense Mutation	CAC,CCC	H34042P	XP_016860310.1
XM_017004822.1	106955	Missense Mutation	CAC,CCC	H33056P	XP_016860311.1
XM_017004823.1	106955	Missense Mutation	CAC,CCC	H26928P	XP_016860312.1

Gene

TTN-AS1

Gene Name

TTN antisense RNA 1

There are no transcripts associated with this gene.

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