Product Details
- SNP ID
-
rs200441784
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:16234045 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGTGATGTTTTGGGGATTCCACTC[G/T]CCAGTGTAATGATTATTGACAACAG
- Phenotype
-
MIM: 605947
- Polymorphism
- G/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
PIGL
PubMed Links
Gene Details
- Gene
- PIGL
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis class L
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_004278.3 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
NP_004269.1 |
XM_011524080.2 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_011522382.1 |
XM_017025349.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880838.1 |
XM_017025350.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880839.1 |
XM_017025351.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880840.1 |
XM_017025352.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880841.1 |
XM_017025353.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880842.1 |
XM_017025354.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880843.1 |
XM_017025355.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880844.1 |
XM_017025356.1 |
328 |
Missense Mutation |
GCC,TCC |
A104S |
XP_016880845.1 |
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