Product Details
- SNP ID
-
rs144966693
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:45934034 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTGGGAGGAGGGGGAAGGGGCCGG[C/T]GTGGAGGTGGCGGCATTGGCAGGGG
- Phenotype
-
MIM: 609709
MIM: 608325
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LARGE2
PubMed Links
Gene Details
- Gene
- LARGE2
- Gene Name
- LARGE xylosyl- and glucuronyltransferase 2
There are no transcripts associated with this gene.
- Gene
- PHF21A
- Gene Name
- PHD finger protein 21A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001101802.1 |
2500 |
Silent Mutation |
ACA,ACG |
T659T |
NP_001095272.1 |
NM_016621.3 |
2500 |
Silent Mutation |
ACA,ACG |
T613T |
NP_057705.3 |
XM_005252965.4 |
2500 |
Silent Mutation |
ACA,ACG |
T660T |
XP_005253022.1 |
XM_011520157.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518459.1 |
XM_011520158.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518460.1 |
XM_011520160.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518462.1 |
XM_011520161.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518463.1 |
XM_011520162.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518464.1 |
XM_011520164.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518466.1 |
XM_011520165.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518467.1 |
XM_011520166.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518468.1 |
XM_011520167.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518469.1 |
XM_011520168.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518470.1 |
XM_011520169.2 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_011518471.1 |
XM_011520173.2 |
2500 |
Silent Mutation |
ACA,ACG |
T660T |
XP_011518475.1 |
XM_011520174.2 |
2500 |
Silent Mutation |
ACA,ACG |
T660T |
XP_011518476.1 |
XM_011520175.2 |
2500 |
Silent Mutation |
ACA,ACG |
T659T |
XP_011518477.1 |
XM_011520179.2 |
2500 |
Silent Mutation |
ACA,ACG |
T613T |
XP_011518481.1 |
XM_017017885.1 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_016873374.1 |
XM_017017886.1 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_016873375.1 |
XM_017017887.1 |
2500 |
Silent Mutation |
ACA,ACG |
T667T |
XP_016873376.1 |
XM_017017888.1 |
2500 |
Silent Mutation |
ACA,ACG |
T666T |
XP_016873377.1 |
XM_017017889.1 |
2500 |
Silent Mutation |
ACA,ACG |
T666T |
XP_016873378.1 |
XM_017017890.1 |
2500 |
Silent Mutation |
ACA,ACG |
T665T |
XP_016873379.1 |
XM_017017891.1 |
2500 |
Silent Mutation |
ACA,ACG |
T659T |
XP_016873380.1 |
XM_017017892.1 |
2500 |
Silent Mutation |
ACA,ACG |
T659T |
XP_016873381.1 |
XM_017017893.1 |
2500 |
UTR 3 |
|
|
XP_016873382.1 |
XM_017017894.1 |
2500 |
Silent Mutation |
ACA,ACG |
T620T |
XP_016873383.1 |
XM_017017895.1 |
2500 |
Silent Mutation |
ACA,ACG |
T619T |
XP_016873384.1 |
XM_017017896.1 |
2500 |
Silent Mutation |
ACA,ACG |
T619T |
XP_016873385.1 |
XM_017017897.1 |
2500 |
Silent Mutation |
ACA,ACG |
T615T |
XP_016873386.1 |
XM_017017898.1 |
2500 |
Silent Mutation |
ACA,ACG |
T615T |
XP_016873387.1 |
XM_017017899.1 |
2500 |
Silent Mutation |
ACA,ACG |
T615T |
XP_016873388.1 |
XM_017017900.1 |
2500 |
Silent Mutation |
ACA,ACG |
T615T |
XP_016873389.1 |
XM_017017901.1 |
2500 |
Silent Mutation |
ACA,ACG |
T615T |
XP_016873390.1 |
XM_017017902.1 |
2500 |
Silent Mutation |
ACA,ACG |
T612T |
XP_016873391.1 |
XM_017017903.1 |
2500 |
Silent Mutation |
ACA,ACG |
T612T |
XP_016873392.1 |
XM_017017904.1 |
2500 |
Intron |
|
|
XP_016873393.1 |
XM_017017905.1 |
2500 |
Silent Mutation |
ACA,ACG |
T583T |
XP_016873394.1 |
XM_017017906.1 |
2500 |
Intron |
|
|
XP_016873395.1 |
XM_017017907.1 |
2500 |
Silent Mutation |
ACA,ACG |
T576T |
XP_016873396.1 |
XM_017017908.1 |
2500 |
Silent Mutation |
ACA,ACG |
T532T |
XP_016873397.1 |
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