Product Details

SNP ID

rs147236224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144841542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTCCCGGGCTGAAAGTGACAGG[C/G]TTTACCTTCCAAAATAACTGTTTGA

Phenotype

MIM: 608216 MIM: 194531

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COMMD5 PubMed Links

Gene Details

Gene

COMMD5

Gene Name

COMM domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081003.2	512	Intron			NP_001074472.1
NM_001081004.2	512	Intron			NP_001074473.1
NM_001287237.1	512	Intron			NP_001274166.1
NM_014066.3	512	Intron			NP_054785.2

Gene

ZNF7

Gene Name

zinc finger protein 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282795.1	512	Silent Mutation	GGC,GGG	G156G	NP_001269724.1
NM_001282796.1	512	Intron			NP_001269725.1
NM_001282797.1	512	Silent Mutation	GGC,GGG	G49G	NP_001269726.1
NM_003416.3	512	Silent Mutation	GGC,GGG	G145G	NP_003407.1
XM_006716654.2	512	Silent Mutation	GGC,GGG	G49G	XP_006716717.1
XM_006716656.3	512	Silent Mutation	GGC,GGG	G49G	XP_006716719.1
XM_011517291.2	512	Silent Mutation	GGC,GGG	G162G	XP_011515593.1
XM_011517292.2	512	Silent Mutation	GGC,GGG	G156G	XP_011515594.1
XM_011517293.2	512	Silent Mutation	GGC,GGG	G145G	XP_011515595.1
XM_011517294.2	512	Silent Mutation	GGC,GGG	G145G	XP_011515596.1
XM_011517295.2	512	Silent Mutation	GGC,GGG	G144G	XP_011515597.1
XM_011517296.2	512	Silent Mutation	GGC,GGG	G144G	XP_011515598.1
XM_011517297.2	512	Silent Mutation	GGC,GGG	G49G	XP_011515599.1
XM_017013813.1	512	Silent Mutation	GGC,GGG	G161G	XP_016869302.1
XM_017013814.1	512	Silent Mutation	GGC,GGG	G166G	XP_016869303.1
XM_017013815.1	512	Silent Mutation	GGC,GGG	G165G	XP_016869304.1
XM_017013816.1	512	Intron			XP_016869305.1
XM_017013817.1	512	Intron			XP_016869306.1

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