Product Details

SNP ID
rs149517739
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:131429105 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACTATAATCTGGAGGTTTTAGG[A/T]GTGTGTGGGGTCCTTCCTTTAGGTC
Phenotype
MIM: 610499
Polymorphism
A/T, Transversion 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 4783 Missense Mutation CAC,CTC H1534L NP_001157858.1
NM_001164387.1 4783 Intron NP_001157859.1
NM_001164388.1 4783 Intron NP_001157860.1
NM_001164389.1 4783 Intron NP_001157861.1
NM_001164390.1 4783 Intron NP_001157862.1
NM_016340.5 4783 Missense Mutation CAC,CTC H1526L NP_057424.3

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