Product Details

SNP ID

rs141221433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17527350 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGACGACAGCAGCATGGGTGGG[C/T]GGCCTTCGAGCCCTCTGGACAAGCA

Phenotype

MIM: 609967 MIM: 604951

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM129C PubMed Links

Gene Details

Gene

FAM129C

Gene Name

family with sequence similarity 129 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098524.1	88	Missense Mutation	CGG,TGG	R35W	NP_001091994.1
NM_001321826.1	88	Missense Mutation	CGG,TGG	R4W	NP_001308755.1
NM_001321827.1	88	Missense Mutation	CGG,TGG	R4W	NP_001308756.1
NM_001321828.1	88	UTR 5			NP_001308757.1
NM_173544.4	88	Missense Mutation	CGG,TGG	R35W	NP_775815.2
XM_005259813.3	88	Missense Mutation	CGG,TGG	R4W	XP_005259870.1
XM_005259814.3	88	Missense Mutation	CGG,TGG	R4W	XP_005259871.1
XM_011527781.2	88	Missense Mutation	CGG,TGG	R4W	XP_011526083.1
XM_011527786.2	88	Missense Mutation	CGG,TGG	R4W	XP_011526088.1
XM_011527787.2	88	Missense Mutation	CGG,TGG	R4W	XP_011526089.1
XM_011527789.1	88	Missense Mutation	CGG,TGG	R4W	XP_011526091.1
XM_017026453.1	88	Missense Mutation	CGG,TGG	R4W	XP_016881942.1
XM_017026454.1	88	Missense Mutation	CGG,TGG	R4W	XP_016881943.1
XM_017026455.1	88	UTR 5			XP_016881944.1
XM_017026456.1	88	UTR 5			XP_016881945.1
XM_017026457.1	88	Intron			XP_016881946.1

Gene

PGLS

Gene Name

6-phosphogluconolactonase

There are no transcripts associated with this gene.

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