Product Details

SNP ID
rs147966541
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57293834 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCCGCGCTTGATCCAGTGCCGAG[C/T]AGGTTGGTCTGTTTTTAACAACATT
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142733.2 12008 Intron NP_001136205.2
NM_130387.5 12008 Intron NP_569058.1
XM_017005736.1 12008 Intron XP_016861225.1
XM_017005737.1 12008 Intron XP_016861226.1
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 12008 Missense Mutation ACT,GCT T3948A NP_001278590.1
NM_198564.3 12008 Intron NP_940966.2
XM_011533466.1 12008 Missense Mutation ACT,GCT T3944A XP_011531768.1
XM_011533467.1 12008 Missense Mutation ACT,GCT T3933A XP_011531769.1
XM_011533468.1 12008 Missense Mutation ACT,GCT T3923A XP_011531770.1
XM_011533469.1 12008 Missense Mutation ACT,GCT T3897A XP_011531771.1
XM_011533471.2 12008 Intron XP_011531773.1
XM_011533474.1 12008 Intron XP_011531776.1
XM_017005860.1 12008 Intron XP_016861349.1
XM_017005861.1 12008 Missense Mutation ACT,GCT T3444A XP_016861350.1
XM_017005862.1 12008 Missense Mutation ACT,GCT T2808A XP_016861351.1
XM_017005863.1 12008 Intron XP_016861352.1

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