Product Details

SNP ID
rs140483488
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:116426044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCACTCCGCAGGAGGCTGGAGCAG[C/T]GGCTACTCACCCTCTCCAGTCGCCG
Phenotype
MIM: 612856
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ASTN2 PubMed Links
Additional Information
For this assay, SNP(s) [rs368407220] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
ASTN2
Gene Name
astrotactin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184734.1 1219 Missense Mutation CAC,CGC H328R NP_001171663.1
NM_001184735.1 1219 Intron NP_001171664.1
NM_014010.4 1219 Missense Mutation CAC,CGC H1225R NP_054729.3
NM_198186.3 1219 Missense Mutation CAC,CGC H377R NP_937829.3
NM_198187.3 1219 Missense Mutation CAC,CGC H328R NP_937830.3
NM_198188.2 1219 Missense Mutation CAC,CGC H328R NP_937831.1

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