Product Details

SNP ID
rs200570912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201289745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGTAGAGGTTTGTGTTCAGTGAC[C/T]CTAGGATAAGGGCTTGTGCATGCAA
Phenotype
MIM: 601763
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALS2CR12 PubMed Links

Gene Details

Gene
ALS2CR12
Gene Name
amyotrophic lateral sclerosis 2 chromosome region candidate 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127391.2 907 Missense Mutation GAG,GGG E328G NP_001120863.1
NM_001289993.1 907 Missense Mutation GAG,GGG E328G NP_001276922.1
NM_139163.3 907 Missense Mutation GAG,GGG E351G NP_631902.2
XM_011510606.2 907 Missense Mutation GAG,GGG E333G XP_011508908.1
XM_011510610.2 907 Missense Mutation GAG,GGG E248G XP_011508912.1
XM_011510612.2 907 Missense Mutation GAG,GGG E142G XP_011508914.1
XM_017003360.1 907 Missense Mutation GAG,GGG E351G XP_016858849.1
XM_017003361.1 907 Intron XP_016858850.1
XM_017003362.1 907 Missense Mutation GAG,GGG E142G XP_016858851.1
Gene
CASP8
Gene Name
caspase 8
There are no transcripts associated with this gene.

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