Product Details

SNP ID
rs138135222
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:131429054 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGGCAGTCTAGAGAGGCTGTTA[C/T]GCATCATCTTTGACCTCTGCACTGC
Phenotype
MIM: 610499
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RAPGEF6 PubMed Links

Gene Details

Gene
RAPGEF6
Gene Name
Rap guanine nucleotide exchange factor 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164386.1 4834 Missense Mutation CAT,CGT H1551R NP_001157858.1
NM_001164387.1 4834 Intron NP_001157859.1
NM_001164388.1 4834 Intron NP_001157860.1
NM_001164389.1 4834 Intron NP_001157861.1
NM_001164390.1 4834 Intron NP_001157862.1
NM_016340.5 4834 Missense Mutation CAT,CGT H1543R NP_057424.3

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