Product Details
- SNP ID
-
rs200432228
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:35105241 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCAATCAGGGCAAAGGTGAATAAC[A/G]TGGATTATGAGGGGCCTCGGTCACA
- Phenotype
-
MIM: 614730
MIM: 608292
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FAM214B
PubMed Links
Gene Details
- Gene
- FAM214B
- Gene Name
- family with sequence similarity 214 member B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001317991.1 |
2057 |
Missense Mutation |
CGT,TGT |
R533C |
NP_001304920.1 |
NM_025182.3 |
2057 |
Missense Mutation |
CGT,TGT |
R533C |
NP_079458.2 |
XM_005251588.1 |
2057 |
Missense Mutation |
CGT,TGT |
R533C |
XP_005251645.1 |
XM_005251590.1 |
2057 |
Intron |
|
|
XP_005251647.1 |
XM_005251591.1 |
2057 |
Missense Mutation |
CGT,TGT |
R533C |
XP_005251648.1 |
XM_005251592.1 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251649.1 |
XM_005251593.1 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251650.1 |
XM_005251594.1 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251651.1 |
XM_005251596.4 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251653.1 |
XM_005251597.4 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251654.1 |
XM_005251598.4 |
2057 |
Missense Mutation |
CGT,TGT |
R336C |
XP_005251655.1 |
XM_011518037.1 |
2057 |
Intron |
|
|
XP_011516339.1 |
XM_011518039.1 |
2057 |
Missense Mutation |
CGT,TGT |
R510C |
XP_011516341.1 |
XM_011518040.1 |
2057 |
Missense Mutation |
CGT,TGT |
R495C |
XP_011516342.1 |
XM_011518043.1 |
2057 |
Missense Mutation |
CGT,TGT |
R228C |
XP_011516345.1 |
XM_011518044.1 |
2057 |
Intron |
|
|
XP_011516346.1 |
XM_017015169.1 |
2057 |
UTR 3 |
|
|
XP_016870658.1 |
XM_017015170.1 |
2057 |
Missense Mutation |
CGT,TGT |
R228C |
XP_016870659.1 |
- Gene
- PIGO
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis class O
There are no transcripts associated with this gene.
- Gene
- STOML2
- Gene Name
- stomatin like 2
There are no transcripts associated with this gene.
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