Product Details

SNP ID
rs200347842
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:44682379 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAAACTTCTTTCTTGCCTTCGAA[A/G]CACAGCTATCGGTAATTCCAGTTAT
Phenotype
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GUF1 PubMed Links

Gene Details

Gene
GUF1
Gene Name
GUF1 homolog, GTPase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021927.2 614 Missense Mutation ACA,GCA T185A NP_068746.2
XM_005248122.3 614 UTR 5 XP_005248179.1
XM_011513732.2 614 Missense Mutation ACA,GCA T185A XP_011512034.1

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