Product Details

SNP ID

rs201060054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75627473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGTCAGCTTCGCTCTCGCACCG[A/G]GCCCGGCCATGGAAGAAGTGCCTGA

Phenotype

MIM: 603781

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MYO15B PubMed Links

Gene Details

Gene

MYO15B

Gene Name

myosin XVB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001309242.1	2029	Intron			NP_001296171.1
XM_017025120.1	2029	Intron			XP_016880609.1
XM_017025121.1	2029	Intron			XP_016880610.1
XM_017025122.1	2029	Intron			XP_016880611.1
XM_017025123.1	2029	Intron			XP_016880612.1
XM_017025124.1	2029	Intron			XP_016880613.1
XM_017025125.1	2029	Intron			XP_016880614.1
XM_017025126.1	2029	Intron			XP_016880615.1
XM_017025127.1	2029	Intron			XP_016880616.1
XM_017025128.1	2029	Intron			XP_016880617.1
XM_017025129.1	2029	Intron			XP_016880618.1
XM_017025130.1	2029	Intron			XP_016880619.1
XM_017025131.1	2029	Intron			XP_016880620.1
XM_017025132.1	2029	Intron			XP_016880621.1
XM_017025133.1	2029	Intron			XP_016880622.1
XM_017025134.1	2029	Intron			XP_016880623.1
XM_017025135.1	2029	Intron			XP_016880624.1
XM_017025136.1	2029	Intron			XP_016880625.1
XM_017025137.1	2029	Intron			XP_016880626.1
XM_017025138.1	2029	Intron			XP_016880627.1
XM_017025139.1	2029	Intron			XP_016880628.1
XM_017025140.1	2029	Intron			XP_016880629.1
XM_017025141.1	2029	Intron			XP_016880630.1
XM_017025142.1	2029	Intron			XP_016880631.1
XM_017025143.1	2029	Intron			XP_016880632.1
XM_017025144.1	2029	Intron			XP_016880633.1

Gene

RECQL5

Gene Name

RecQ like helicase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003715.3	2029	Intron			NP_001003715.1
NM_001003716.3	2029	Intron			NP_001003716.1
NM_004259.6	2029	Silent Mutation	GCC,GCT	A975A	NP_004250.4
XM_005257818.3	2029	Silent Mutation	GCC,GCT	A996A	XP_005257875.1
XM_005257822.3	2029	Silent Mutation	GCC,GCT	A570A	XP_005257879.1
XM_005257823.3	2029	Intron			XP_005257880.1
XM_006722186.2	2029	Silent Mutation	GCC,GCT	A591A	XP_006722249.1
XM_011525482.2	2029	Silent Mutation	GCC,GCT	A996A	XP_011523784.1
XM_011525484.1	2029	Silent Mutation	GCC,GCT	A602A	XP_011523786.1
XM_011525485.2	2029	Silent Mutation	GCC,GCT	A596A	XP_011523787.1
XM_011525486.2	2029	Silent Mutation	GCC,GCT	A485A	XP_011523788.1
XM_017025343.1	2029	Silent Mutation	GCC,GCT	A975A	XP_016880832.1
XM_017025344.1	2029	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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