Product Details

SNP ID
rs141048290
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:12993010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACAGGGCTTTCAGTGGGGGAAT[C/G]AGCTTGGGCATTGTTGGAAAGTCTC
Phenotype
MIM: 605367
Polymorphism
C/G, Transversion 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 2403 Silent Mutation CTC,CTG L723L NP_001159434.1
NM_018127.6 2403 Silent Mutation CTC,CTG L763L NP_060597.4
NM_173717.1 2403 Silent Mutation CTC,CTG L762L NP_776065.1

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