Product Details

SNP ID
rs150082041
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:98176623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATTTGCAGCTGTCCCCGAAGCCA[C/T]AGAAGCCAGTCTCCTTGTAGTCCTT
Phenotype
MIM: 602654
Polymorphism
C/T, Transition 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_001001715.3 645 Intron NP_001001715.2
NM_001286839.1 645 Intron NP_001273768.1
NM_005766.3 645 Intron NP_005757.1
XM_011521046.2 645 Intron XP_011519348.1
XM_017020312.1 645 Intron XP_016875801.1
XM_017020313.1 645 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_178861.4 645 Missense Mutation TAT,TGT Y205C NP_849192.1

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