Product Details

SNP ID
rs200416249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201701868 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGCAGCCTAGTTAAGCTTCTCAC[A/G]CTGAATCTGGTAGTAACATGCCTGG
Phenotype
MIM: 606352 MIM: 606575
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALS2 PubMed Links

Gene Details

Gene
ALS2
Gene Name
ALS2, alsin Rho guanine nucleotide exchange factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135745.1 4605 Intron NP_001129217.1
NM_020919.3 4605 Missense Mutation CGT,TGT R1653C NP_065970.2
XM_006712654.2 4605 Missense Mutation CGT,TGT R1653C XP_006712717.1
XM_006712655.3 4605 Missense Mutation CGT,TGT R965C XP_006712718.1
XM_011511530.2 4605 Missense Mutation CGT,TGT R1540C XP_011509832.1
XM_017004569.1 4605 Missense Mutation CGT,TGT R1652C XP_016860058.1
XM_017004570.1 4605 Intron XP_016860059.1
XM_017004571.1 4605 Missense Mutation CGT,TGT R964C XP_016860060.1
XM_017004572.1 4605 Missense Mutation CGT,TGT R859C XP_016860061.1
Gene
MPP4
Gene Name
membrane palmitoylated protein 4
There are no transcripts associated with this gene.

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