Product Details

SNP ID
rs200243150
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:84824007 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATTGCCGGAGTCGCGGCCTCCGC[A/T]GTGACCGCCTCCGCTTCTTCCGGAA
Phenotype
MIM: 603336 MIM: 614912
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DNAH6 PubMed Links

Gene Details

Gene
DNAH6
Gene Name
dynein axonemal heavy chain 6
There are no transcripts associated with this gene.

Gene
TRABD2A
Gene Name
TraB domain containing 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080824.2 1339 Missense Mutation CAG,CTG Q378L NP_001074293.1
NM_001277053.1 1339 Missense Mutation CAG,CTG Q427L NP_001263982.1
NM_001307978.1 1339 Intron NP_001294907.1
XM_011532504.1 1339 Missense Mutation CAG,CTG Q324L XP_011530806.1

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