Product Details

SNP ID
rs200117563
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:116426065 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGTGGCTACTCACCCTCTCCAGT[C/T]GCCGTAGAATCAGGTGGGCCTTCCT
Phenotype
MIM: 612856
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASTN2 PubMed Links

Gene Details

Gene
ASTN2
Gene Name
astrotactin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184734.1 1198 Missense Mutation CAA,CGA Q321R NP_001171663.1
NM_001184735.1 1198 Intron NP_001171664.1
NM_014010.4 1198 Missense Mutation CAA,CGA Q1218R NP_054729.3
NM_198186.3 1198 Missense Mutation CAA,CGA Q370R NP_937829.3
NM_198187.3 1198 Missense Mutation CAA,CGA Q321R NP_937830.3
NM_198188.2 1198 Missense Mutation CAA,CGA Q321R NP_937831.1

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