Product Details

SNP ID
rs189412622
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201704186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGATAGGGGTCCATTAGATCCTCA[A/G]TGAGGTGTACCTCAGAGCCTAAATT
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 4519 Intron NP_001129217.1
NM_020919.3 4519 Missense Mutation ACT,ATT T1624I NP_065970.2
XM_006712654.2 4519 Missense Mutation ACT,ATT T1624I XP_006712717.1
XM_006712655.3 4519 Missense Mutation ACT,ATT T936I XP_006712718.1
XM_011511530.2 4519 Missense Mutation ACT,ATT T1511I XP_011509832.1
XM_017004569.1 4519 Missense Mutation ACT,ATT T1623I XP_016860058.1
XM_017004570.1 4519 Intron XP_016860059.1
XM_017004571.1 4519 Missense Mutation ACT,ATT T935I XP_016860060.1
XM_017004572.1 4519 Missense Mutation ACT,ATT T830I XP_016860061.1
Gene
MPP4
Gene Name
membrane palmitoylated protein 4
There are no transcripts associated with this gene.

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