Product Details

SNP ID
rs140010427
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75628386 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACGCTGCCCTTGACCTCAGCTAC[A/G]ACGGAGGGCTTGGCTGAGGGGCGTG
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 1741 Intron NP_001003715.1
NM_001003716.3 1741 Intron NP_001003716.1
NM_004259.6 1741 Silent Mutation GTC,GTT V879V NP_004250.4
XM_005257818.3 1741 Silent Mutation GTC,GTT V900V XP_005257875.1
XM_005257822.3 1741 Silent Mutation GTC,GTT V474V XP_005257879.1
XM_005257823.3 1741 Intron XP_005257880.1
XM_006722186.2 1741 Silent Mutation GTC,GTT V495V XP_006722249.1
XM_011525482.2 1741 Silent Mutation GTC,GTT V900V XP_011523784.1
XM_011525484.1 1741 Silent Mutation GTC,GTT V506V XP_011523786.1
XM_011525485.2 1741 Silent Mutation GTC,GTT V500V XP_011523787.1
XM_011525486.2 1741 Silent Mutation GTC,GTT V389V XP_011523788.1
XM_017025343.1 1741 Silent Mutation GTC,GTT V879V XP_016880832.1
XM_017025344.1 1741 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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