Product Details

SNP ID
rs117916098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75633949 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTCAGGGCAGAGGTGAGGCACC[A/G]GGACATGAAGTTGGAGGACAAGTTC
Phenotype
MIM: 603781
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYO15B PubMed Links

Gene Details

Gene
MYO15B
Gene Name
myosin XVB
There are no transcripts associated with this gene.

Gene
RECQL5
Gene Name
RecQ like helicase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001003715.3 516 Intron NP_001003715.1
NM_001003716.3 516 Intron NP_001003716.1
NM_004259.6 516 Intron NP_004250.4
XM_005257818.3 516 Intron XP_005257875.1
XM_005257822.3 516 UTR 5 XP_005257879.1
XM_005257823.3 516 Intron XP_005257880.1
XM_006722186.2 516 Intron XP_006722249.1
XM_011525482.2 516 Intron XP_011523784.1
XM_011525484.1 516 Intron XP_011523786.1
XM_011525485.2 516 Intron XP_011523787.1
XM_011525486.2 516 Intron XP_011523788.1
XM_017025343.1 516 Intron XP_016880832.1
XM_017025344.1 516 Intron XP_016880833.1
Gene
SMIM5
Gene Name
small integral membrane protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162995.2 516 UTR 5 NP_001156467.1
XM_011525116.2 516 Intron XP_011523418.1
XM_011525118.2 516 Intron XP_011523420.1
XM_011525119.2 516 Intron XP_011523421.1
XM_017024943.1 516 Intron XP_016880432.1
XM_017024944.1 516 Intron XP_016880433.1
XM_017024945.1 516 Intron XP_016880434.1
XM_017024946.1 516 Intron XP_016880435.1
XM_017024947.1 516 Intron XP_016880436.1
XM_017024948.1 516 Intron XP_016880437.1

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