Product Details

SNP ID
rs149215619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169529890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTAGTCCATCCGAGCATCCTTTG[C/T]TGACAGTGCCATAGAGTTCCATTCA
Phenotype
MIM: 607701
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FASTKD1 PubMed Links

Gene Details

Gene
FASTKD1
Gene Name
FAST kinase domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281476.2 2802 Missense Mutation ACA,GCA T784A NP_001268405.1
NM_001322046.1 2802 Missense Mutation ACA,GCA T827A NP_001308975.1
NM_001322048.1 2802 Missense Mutation ACA,GCA T804A NP_001308977.1
NM_001322049.1 2802 Missense Mutation ACA,GCA T761A NP_001308978.1
NM_024622.5 2802 Missense Mutation ACA,GCA T827A NP_078898.3
XM_006712750.3 2802 Missense Mutation ACA,GCA T804A XP_006712813.1
XM_006712751.3 2802 Missense Mutation ACA,GCA T507A XP_006712814.1
XM_017004911.1 2802 Missense Mutation ACA,GCA T655A XP_016860400.1
XM_017004912.1 2802 Missense Mutation ACA,GCA T464A XP_016860401.1
Gene
KLHL41
Gene Name
kelch like family member 41
There are no transcripts associated with this gene.

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