Product Details

SNP ID
rs137938931
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201288669 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACTTTTTGTTTATGATTCTTGTC[C/T]TTTCTTGCTACCATCTTGCACAGTG
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 1179 Missense Mutation AGA,GGA R419G NP_001120863.1
NM_001289993.1 1179 Missense Mutation AGA,GGA R419G NP_001276922.1
NM_139163.3 1179 Missense Mutation AGA,GGA R442G NP_631902.2
XM_011510606.2 1179 Missense Mutation AGA,GGA R424G XP_011508908.1
XM_011510610.2 1179 Missense Mutation AGA,GGA R339G XP_011508912.1
XM_011510612.2 1179 Missense Mutation AGA,GGA R233G XP_011508914.1
XM_017003360.1 1179 Intron XP_016858849.1
XM_017003361.1 1179 Intron XP_016858850.1
XM_017003362.1 1179 Missense Mutation AGA,GGA R233G XP_016858851.1
Gene
CASP8
Gene Name
caspase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080124.1 1179 Intron NP_001073593.1
NM_001080125.1 1179 Intron NP_001073594.1
NM_001228.4 1179 Intron NP_001219.2
NM_033355.3 1179 Intron NP_203519.1
NM_033356.3 1179 Intron NP_203520.1
NM_033358.3 1179 Intron NP_203522.1
XM_005246885.1 1179 Intron XP_005246942.1
XM_005246886.1 1179 Intron XP_005246943.1
XM_005246887.1 1179 Intron XP_005246944.1
XM_005246888.1 1179 Intron XP_005246945.1
XM_005246889.1 1179 Intron XP_005246946.1
XM_005246890.3 1179 Intron XP_005246947.1
XM_005246891.4 1179 Intron XP_005246948.1
XM_005246892.1 1179 Intron XP_005246949.1
XM_005246893.2 1179 Intron XP_005246950.1
XM_005246894.3 1179 Intron XP_005246951.1
XM_005246895.2 1179 Intron XP_005246952.1
XM_006712789.1 1179 Intron XP_006712852.1
XM_006712790.3 1179 Intron XP_006712853.1
XM_006712793.2 1179 Intron XP_006712856.1
XM_011511969.1 1179 Intron XP_011510271.1

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