Product Details

SNP ID

rs7414148

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:44412532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGGCCAAGCGACTTAAGAACTG[C/G]CATGACACAGAGTCTCCCCACTTGC

Phenotype

MIM: 616136

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RNF220 PubMed Links

Gene Details

Gene

RNF220

Gene Name

ring finger protein 220

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319956.1	1091	Missense Mutation	TGC,TGG	C145W	NP_001306885.1
NM_001319957.1	1091	Intron			NP_001306886.1
NM_018150.3	1091	Missense Mutation	TGC,TGG	C145W	NP_060620.2
XM_005270992.1	1091	Missense Mutation	TGC,TGG	C145W	XP_005271049.1
XM_005270993.1	1091	Missense Mutation	TGC,TGG	C145W	XP_005271050.1
XM_005270996.1	1091	Intron			XP_005271053.1
XM_006710735.3	1091	Missense Mutation	TGC,TGG	C145W	XP_006710798.1
XM_011541698.1	1091	Missense Mutation	TGC,TGG	C145W	XP_011540000.1
XM_011541699.1	1091	Missense Mutation	TGC,TGG	C145W	XP_011540001.1
XM_011541700.1	1091	Missense Mutation	TGC,TGG	C145W	XP_011540002.1
XM_011541702.1	1091	Intron			XP_011540004.1
XM_017001623.1	1091	Missense Mutation	TGC,TGG	C145W	XP_016857112.1
XM_017001624.1	1091	Missense Mutation	TGC,TGG	C145W	XP_016857113.1
XM_017001625.1	1091	Missense Mutation	TGC,TGG	C145W	XP_016857114.1
XM_017001626.1	1091	Intron			XP_016857115.1

View Full Product Details