Product Details

SNP ID
rs200827637
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:12992948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCCCGCACCTGCCGCAGCTCCCGC[C/T]TCTCCCTGCGCTCCTCCATCTCCTC
Phenotype
MIM: 605367
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ARHGAP44 PubMed Links

Gene Details

Gene
ARHGAP44
Gene Name
Rho GTPase activating protein 44
There are no transcripts associated with this gene.

Gene
ELAC2
Gene Name
elaC ribonuclease Z 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165962.1 2465 Missense Mutation AAG,AGG K744R NP_001159434.1
NM_018127.6 2465 Missense Mutation AAG,AGG K784R NP_060597.4
NM_173717.1 2465 Missense Mutation AAG,AGG K783R NP_776065.1

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