Product Details

SNP ID
rs151283213
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:46671058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCTTCTTTCTGGATGTGCTCGT[A/G]ACAGGACTGGAGGGAGAGAGGCAAG
Phenotype
MIM: 612402
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ALS2CL PubMed Links

Gene Details

Gene
ALS2CL
Gene Name
ALS2 C-terminal like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190707.1 2884 Missense Mutation CAC,TAC H930Y NP_001177636.1
NM_147129.4 2884 Missense Mutation CAC,TAC H930Y NP_667340.2
XM_005265025.1 2884 Missense Mutation CAC,TAC H445Y XP_005265082.1
XM_006713091.2 2884 Intron XP_006713154.1
XM_006713093.3 2884 Intron XP_006713156.1
XM_006713094.3 2884 Intron XP_006713157.1
XM_011533572.2 2884 Intron XP_011531874.1
XM_017006120.1 2884 Intron XP_016861609.1

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