Product Details

SNP ID: rs200673226
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:55159099 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTGGAGTCTGACTCACAGTTGGGC[A/G]GAGCCAAGGCCCCCTGAGGCTGAGC
Phenotype: MIM: 614566 MIM: 191044 MIM: 191041
Polymorphism: A/G, 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	1804	Missense Mutation	CCG,CTG	P597L	NP_001243643.1
NM_001256715.1	1804	Missense Mutation	CCG,CTG	P530L	NP_001243644.1
NM_001256716.1	1804	Missense Mutation	CCG,CTG	P476L	NP_001243645.1
NM_178837.4	1804	Missense Mutation	CCG,CTG	P577L	NP_849159.2

Gene: TNNI3
Gene Name: troponin I3, cardiac type

There are no transcripts associated with this gene.

Gene: TNNT1
Gene Name: troponin T1, slow skeletal type

There are no transcripts associated with this gene.

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