Product Details
- SNP ID
-
rs201415239
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:17530824 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGCAGCTGGCAGCGTCTGTCCTGC[A/G]GCAGATCTCTCGAGAGCTGGGCCCT
- 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 |
203 |
Missense Mutation |
CAG,CGG |
Q73R |
NP_001091994.1 |
NM_001321826.1 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
NP_001308755.1 |
NM_001321827.1 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
NP_001308756.1 |
NM_001321828.1 |
203 |
Intron |
|
|
NP_001308757.1 |
NM_173544.4 |
203 |
Missense Mutation |
CAG,CGG |
Q73R |
NP_775815.2 |
XM_005259813.3 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_005259870.1 |
XM_005259814.3 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_005259871.1 |
XM_011527781.2 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_011526083.1 |
XM_011527786.2 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_011526088.1 |
XM_011527787.2 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_011526089.1 |
XM_011527789.1 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_011526091.1 |
XM_017026453.1 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_016881942.1 |
XM_017026454.1 |
203 |
Missense Mutation |
CAG,CGG |
Q42R |
XP_016881943.1 |
XM_017026455.1 |
203 |
Intron |
|
|
XP_016881944.1 |
XM_017026456.1 |
203 |
Intron |
|
|
XP_016881945.1 |
XM_017026457.1 |
203 |
Intron |
|
|
XP_016881946.1 |
- Gene
- PGLS
- Gene Name
- 6-phosphogluconolactonase
There are no transcripts associated with this gene.
View Full Product Details