Product Details

SNP ID

rs16866378

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178528384 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCATTTCGGATTTCAAGGGAGTAT[A/G]CATTTCTGGAGCGGCTTATGCTGAC

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	106385	Missense Mutation	GCA,GTA	A34115V	NP_001243779.1
NM_001267550.2	106385	Missense Mutation	GCA,GTA	A35756V	NP_001254479.2
NM_003319.4	106385	Missense Mutation	GCA,GTA	A26691V	NP_003310.4
NM_133378.4	106385	Missense Mutation	GCA,GTA	A33188V	NP_596869.4
NM_133379.4	106385	Intron			NP_596870.2
NM_133432.3	106385	Missense Mutation	GCA,GTA	A26816V	NP_597676.3
NM_133437.4	106385	Missense Mutation	GCA,GTA	A26883V	NP_597681.4
XM_017004819.1	106385	Missense Mutation	GCA,GTA	A35387V	XP_016860308.1
XM_017004820.1	106385	Missense Mutation	GCA,GTA	A33853V	XP_016860309.1
XM_017004821.1	106385	Missense Mutation	GCA,GTA	A33852V	XP_016860310.1
XM_017004822.1	106385	Missense Mutation	GCA,GTA	A32866V	XP_016860311.1
XM_017004823.1	106385	Missense Mutation	GCA,GTA	A26738V	XP_016860312.1

Gene

TTN-AS1

Gene Name

TTN antisense RNA 1

There are no transcripts associated with this gene.

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