Product Details

SNP ID
rs145194143
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:38846086 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACTTCCACTTCCATCTTCCTTTA[A/T]CCTATTTTAAAAGAAAGTACTATTC
Phenotype
MIM: 608267
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
RRAGC PubMed Links

Gene Details

Gene
RRAGC
Gene Name
Ras related GTP binding C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271851.1 976 Missense Mutation ATA,TTA I267L NP_001258780.1
NM_022157.3 976 Missense Mutation ATA,TTA I301L NP_071440.1

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