Product Details

SNP ID

rs146045012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177022774 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGCCGGCCACGGTGCAGGCCGC[C/G]GACGGCGGAGCGGCCGGGCCTTACA

Phenotype

MIM: 609433 MIM: 605308

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

UIMC1 PubMed Links

Gene Details

Gene

UIMC1

Gene Name

ubiquitin interaction motif containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199297.2	95	Intron			NP_001186226.1
NM_001199298.1	95	Intron			NP_001186227.1
NM_001317961.1	95	Intron			NP_001304890.1
NM_016290.4	95	Intron			NP_057374.3
XM_005265930.2	95	Intron			XP_005265987.1
XM_005265932.2	95	Intron			XP_005265989.1
XM_005265933.2	95	Intron			XP_005265990.1
XM_005265934.2	95	Intron			XP_005265991.1
XM_005265935.2	95	Intron			XP_005265992.1
XM_005265936.2	95	Intron			XP_005265993.1
XM_006714871.2	95	Intron			XP_006714934.1
XM_006714874.2	95	Intron			XP_006714937.1
XM_011534568.2	95	Intron			XP_011532870.1
XM_011534570.1	95	Intron			XP_011532872.1
XM_017009574.1	95	Intron			XP_016865063.1
XM_017009575.1	95	Intron			XP_016865064.1
XM_017009576.1	95	Intron			XP_016865065.1
XM_017009577.1	95	Intron			XP_016865066.1
XM_017009578.1	95	Intron			XP_016865067.1
XM_017009579.1	95	Intron			XP_016865068.1

Gene

ZNF346

Gene Name

zinc finger protein 346

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308213.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295142.1
NM_001308214.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295143.1
NM_001308215.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295144.1
NM_001308216.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295145.1
NM_001308218.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295147.1
NM_001308219.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295148.1
NM_001308221.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295150.1
NM_001308223.1	95	Silent Mutation	GCC,GCG	A12A	NP_001295152.1
NM_012279.3	95	Silent Mutation	GCC,GCG	A12A	NP_036411.1
XM_005265860.2	95	Silent Mutation	GCC,GCG	A12A	XP_005265917.1
XM_005265864.3	95	Silent Mutation	GCC,GCG	A12A	XP_005265921.1
XM_011534493.1	95	Silent Mutation	GCC,GCG	A12A	XP_011532795.1
XM_011534494.1	95	Silent Mutation	GCC,GCG	A12A	XP_011532796.1
XM_011534495.2	95	Silent Mutation	GCC,GCG	A12A	XP_011532797.1
XM_011534496.2	95	Silent Mutation	GCC,GCG	A12A	XP_011532798.1
XM_011534497.2	95	Silent Mutation	GCC,GCG	A12A	XP_011532799.1
XM_017009294.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864783.1
XM_017009295.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864784.1
XM_017009296.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864785.1
XM_017009297.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864786.1
XM_017009298.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864787.1
XM_017009299.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864788.1
XM_017009300.1	95	Intron			XP_016864789.1
XM_017009301.1	95	Silent Mutation	GCC,GCG	A12A	XP_016864790.1
XM_017009302.1	95	UTR 5			XP_016864791.1
XM_017009303.1	95	Intron			XP_016864792.1

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