Product Details

SNP ID
rs148267601
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:98176813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCCCCGGTAGATGTGGTCGTGCT[C/G]CCGACCCCGCAGTGCCTCCTGGACC
Phenotype
MIM: 602654
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
FARP1 PubMed Links

Gene Details

Gene
FARP1
Gene Name
FERM, ARH/RhoGEF and pleckstrin domain protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001715.3 455 Intron NP_001001715.2
NM_001286839.1 455 Intron NP_001273768.1
NM_005766.3 455 Intron NP_005757.1
XM_011521046.2 455 Intron XP_011519348.1
XM_017020312.1 455 Intron XP_016875801.1
XM_017020313.1 455 Intron XP_016875802.1
Gene
RNF113B
Gene Name
ring finger protein 113B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178861.4 455 Missense Mutation CAG,GAG Q142E NP_849192.1

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