Product Details

SNP ID
rs201908082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:73075561 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGGGATCTGCAGCAGCGTGGGT[A/G]AGGTCTCCATGATCCGCACCAGCAG
Phenotype
MIM: 605536 MIM: 615572
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RAB11FIP5 PubMed Links

Gene Details

Gene
RAB11FIP5
Gene Name
RAB11 family interacting protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015470.2 4117 Missense Mutation TCA,TTA S641L NP_056285.1
XM_005264251.3 4117 Missense Mutation TCA,TTA S1206L XP_005264308.1
XM_005264252.3 4117 Missense Mutation TCA,TTA S1312L XP_005264309.1
XM_005264253.4 4117 Intron XP_005264310.1
XM_006711985.3 4117 Missense Mutation TCA,TTA S1237L XP_006712048.1
XM_011532753.2 4117 Missense Mutation TCA,TTA S1106L XP_011531055.1
XM_011532754.2 4117 Intron XP_011531056.1
XM_011532755.2 4117 Intron XP_011531057.1
XM_011532756.2 4117 Intron XP_011531058.1
XM_017003788.1 4117 Missense Mutation TCA,TTA S1061L XP_016859277.1
Gene
SFXN5
Gene Name
sideroflexin 5
There are no transcripts associated with this gene.

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