Product Details

SNP ID

rs147009011

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:92247881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAAAATTGCACATTACCAACCTT[A/G]GCTATTTTTAATTTCTGCTTCATAA

Phenotype

MIM: 601749

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1orf146 PubMed Links

Gene Details

Gene

C1orf146

Gene Name

chromosome 1 open reading frame 146

There are no transcripts associated with this gene.

Gene

GLMN

Gene Name

glomulin, FKBP associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319683.1	1583	Nonsense Mutation	CAA,TAA	Q514*	NP_001306612.1
NM_053274.2	1583	Nonsense Mutation	CAA,TAA	Q528*	NP_444504.1
XM_005270401.3	1583	Missense Mutation	AAA,CAA	K486Q	XP_005270458.1
XM_006710309.2	1583	Nonsense Mutation	CAA,TAA	Q361*	XP_006710372.1
XM_011540546.2	1583	Nonsense Mutation	CAA,TAA	Q528*	XP_011538848.1
XM_017000137.1	1583	Nonsense Mutation	CAA,TAA	Q561*	XP_016855626.1
XM_017000138.1	1583	Nonsense Mutation	CAA,TAA	Q547*	XP_016855627.1
XM_017000139.1	1583	Nonsense Mutation	CAA,TAA	Q526*	XP_016855628.1
XM_017000140.1	1583	Nonsense Mutation	CAA,TAA	Q519*	XP_016855629.1
XM_017000141.1	1583	Nonsense Mutation	CAA,TAA	Q493*	XP_016855630.1
XM_017000142.1	1583	Nonsense Mutation	CAA,TAA	Q347*	XP_016855631.1
XM_017000143.1	1583	Nonsense Mutation	CAA,TAA	Q347*	XP_016855632.1
XM_017000144.1	1583	Nonsense Mutation	CAA,TAA	Q271*	XP_016855633.1

View Full Product Details