Product Details

SNP ID

rs146222873

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:1181177 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTCACTGTGTCCGGATTGACTC[A/G]AGCCTCACGGGGGATGGCGTATGCT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMF1 PubMed Links

Gene Details

Gene

PSMF1

Gene Name

proteasome inhibitor subunit 1

There are no transcripts associated with this gene.

Gene

TMEM74B

Gene Name

transmembrane protein 74B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304748.1	1295	Nonsense Mutation	CGA,TGA	R148*	NP_001291677.1
NM_001304749.1	1295	Nonsense Mutation	CGA,TGA	R124*	NP_001291678.1
NM_018354.2	1295	Nonsense Mutation	CGA,TGA	R148*	NP_060824.1
XM_011529281.2	1295	Nonsense Mutation	CGA,TGA	R205*	XP_011527583.1
XM_011529282.2	1295	Nonsense Mutation	CGA,TGA	R148*	XP_011527584.1
XM_011529283.2	1295	Nonsense Mutation	CGA,TGA	R148*	XP_011527585.1
XM_011529284.2	1295	Nonsense Mutation	CGA,TGA	R148*	XP_011527586.1
XM_011529285.2	1295	Nonsense Mutation	CGA,TGA	R124*	XP_011527587.1
XM_017027923.1	1295	Nonsense Mutation	CGA,TGA	R180*	XP_016883412.1
XM_017027924.1	1295	Nonsense Mutation	CGA,TGA	R148*	XP_016883413.1
XM_017027925.1	1295	Nonsense Mutation	CGA,TGA	R124*	XP_016883414.1

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