Product Details

SNP ID
rs201290003
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75628334 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGAAGGGGTCTTGAGCCGTGG[A/G]ATTCAAGGTGCCCTGTTCGCTGGCC
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 1793 Intron NP_001003715.1
NM_001003716.3 1793 Intron NP_001003716.1
NM_004259.6 1793 Missense Mutation CCC,TCC P897S NP_004250.4
XM_005257818.3 1793 Missense Mutation CCC,TCC P918S XP_005257875.1
XM_005257822.3 1793 Missense Mutation CCC,TCC P492S XP_005257879.1
XM_005257823.3 1793 Intron XP_005257880.1
XM_006722186.2 1793 Missense Mutation CCC,TCC P513S XP_006722249.1
XM_011525482.2 1793 Missense Mutation CCC,TCC P918S XP_011523784.1
XM_011525484.1 1793 Missense Mutation CCC,TCC P524S XP_011523786.1
XM_011525485.2 1793 Missense Mutation CCC,TCC P518S XP_011523787.1
XM_011525486.2 1793 Missense Mutation CCC,TCC P407S XP_011523788.1
XM_017025343.1 1793 Missense Mutation CCC,TCC P897S XP_016880832.1
XM_017025344.1 1793 Intron XP_016880833.1
Gene
SMIM5
Gene Name
small integral membrane protein 5
There are no transcripts associated with this gene.

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