Product Details

SNP ID
rs114075870
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:57296381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCGTGCGCCATCGAGATACAGTC[C/T]GTGGATATAAACACCATCTTCTGGT
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 11765 Missense Mutation AGA,GGA R3867G NP_001278590.1
NM_198564.3 11765 Intron NP_940966.2
XM_011533466.1 11765 Missense Mutation AGA,GGA R3863G XP_011531768.1
XM_011533467.1 11765 Missense Mutation AGA,GGA R3852G XP_011531769.1
XM_011533468.1 11765 Missense Mutation AGA,GGA R3842G XP_011531770.1
XM_011533469.1 11765 Missense Mutation AGA,GGA R3816G XP_011531771.1
XM_011533471.2 11765 Intron XP_011531773.1
XM_011533474.1 11765 Intron XP_011531776.1
XM_017005860.1 11765 Intron XP_016861349.1
XM_017005861.1 11765 Missense Mutation AGA,GGA R3363G XP_016861350.1
XM_017005862.1 11765 Missense Mutation AGA,GGA R2727G XP_016861351.1
XM_017005863.1 11765 Intron XP_016861352.1

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