Product Details

SNP ID
rs73504235
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17527332 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGAAGAGGAGCCCCGGGAGAC[A/G]ACAGCAGCATGGGTGGGCGGCCTTC
Phenotype
MIM: 609967 MIM: 604951
Polymorphism
A/G, 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 70 Missense Mutation AAC,GAC N29D NP_001091994.1
NM_001321826.1 70 UTR 5 NP_001308755.1
NM_001321827.1 70 UTR 5 NP_001308756.1
NM_001321828.1 70 UTR 5 NP_001308757.1
NM_173544.4 70 Missense Mutation AAC,GAC N29D NP_775815.2
XM_005259813.3 70 UTR 5 XP_005259870.1
XM_005259814.3 70 UTR 5 XP_005259871.1
XM_011527781.2 70 UTR 5 XP_011526083.1
XM_011527786.2 70 UTR 5 XP_011526088.1
XM_011527787.2 70 UTR 5 XP_011526089.1
XM_011527789.1 70 UTR 5 XP_011526091.1
XM_017026453.1 70 UTR 5 XP_016881942.1
XM_017026454.1 70 UTR 5 XP_016881943.1
XM_017026455.1 70 UTR 5 XP_016881944.1
XM_017026456.1 70 UTR 5 XP_016881945.1
XM_017026457.1 70 Intron XP_016881946.1
Gene
PGLS
Gene Name
6-phosphogluconolactonase
There are no transcripts associated with this gene.

View Full Product Details