Product Details

SNP ID

rs202056577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55160683 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTCCCTCCGCGTGCTGCTGCTC[C/T]TCCAGGTCCCCCCCGGTGGCTCTCG

Phenotype

MIM: 614566 MIM: 191044

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAAF3 PubMed Links

Gene Details

Gene

DNAAF3

Gene Name

dynein axonemal assembly factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256714.1	1220	Silent Mutation	GAA,GAG	E403E	NP_001243643.1
NM_001256715.1	1220	Silent Mutation	GAA,GAG	E335E	NP_001243644.1
NM_001256716.1	1220	Silent Mutation	GAA,GAG	E281E	NP_001243645.1
NM_178837.4	1220	Silent Mutation	GAA,GAG	E382E	NP_849159.2

Gene

TNNI3

Gene Name

troponin I3, cardiac type

There are no transcripts associated with this gene.

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