Product Details

SNP ID
rs199566484
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57301881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCCAATGCAGAATCCATCACAA[C/T]CACACCCTTAATAGCTTTTTCAAGG
Phenotype
MIM: 603340
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASB14 PubMed Links

Gene Details

Gene
ASB14
Gene Name
ankyrin repeat and SOCS box containing 14
There are no transcripts associated with this gene.

Gene
DNAH12
Gene Name
dynein axonemal heavy chain 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291661.1 11426 Missense Mutation ATT,GTT I3754V NP_001278590.1
NM_198564.3 11426 Intron NP_940966.2
XM_011533466.1 11426 Missense Mutation ATT,GTT I3750V XP_011531768.1
XM_011533467.1 11426 Missense Mutation ATT,GTT I3739V XP_011531769.1
XM_011533468.1 11426 Missense Mutation ATT,GTT I3729V XP_011531770.1
XM_011533469.1 11426 Missense Mutation ATT,GTT I3703V XP_011531771.1
XM_011533471.2 11426 Intron XP_011531773.1
XM_011533474.1 11426 Intron XP_011531776.1
XM_017005860.1 11426 Missense Mutation ATT,GTT I3750V XP_016861349.1
XM_017005861.1 11426 Missense Mutation ATT,GTT I3250V XP_016861350.1
XM_017005862.1 11426 Missense Mutation ATT,GTT I2614V XP_016861351.1
XM_017005863.1 11426 Intron XP_016861352.1

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