Product Details

SNP ID

rs143223249

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:92246538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTAGGAAATGGAACTTTCACTTTA[C/T]CCCAATATTTTCTTCAGAGGTAGAC

Phenotype

MIM: 601749

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1orf146 PubMed Links

Gene Details

Gene

C1orf146

Gene Name

chromosome 1 open reading frame 146

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012425.1	1778	Intron			NP_001012425.1
XM_011541447.2	1778	Intron			XP_011539749.1

Gene

GLMN

Gene Name

glomulin, FKBP associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319683.1	1778	Missense Mutation	ATA,GTA	I579V	NP_001306612.1
NM_053274.2	1778	Missense Mutation	ATA,GTA	I593V	NP_444504.1
XM_005270401.3	1778	Missense Mutation	ATA,GTA	I551V	XP_005270458.1
XM_006710309.2	1778	Missense Mutation	ATA,GTA	I426V	XP_006710372.1
XM_011540546.2	1778	Missense Mutation	ATA,GTA	I593V	XP_011538848.1
XM_017000137.1	1778	Missense Mutation	ATA,GTA	I626V	XP_016855626.1
XM_017000138.1	1778	Missense Mutation	ATA,GTA	I612V	XP_016855627.1
XM_017000139.1	1778	Missense Mutation	ATA,GTA	I591V	XP_016855628.1
XM_017000140.1	1778	Missense Mutation	ATA,GTA	I584V	XP_016855629.1
XM_017000141.1	1778	Missense Mutation	ATA,GTA	I558V	XP_016855630.1
XM_017000142.1	1778	Missense Mutation	ATA,GTA	I412V	XP_016855631.1
XM_017000143.1	1778	Missense Mutation	ATA,GTA	I412V	XP_016855632.1
XM_017000144.1	1778	Missense Mutation	ATA,GTA	I336V	XP_016855633.1

View Full Product Details