Product Details
- SNP ID
-
rs200282189
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:45924520 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCCCACACAGCCCCAGGTCTCCTG[A/G]ATCCCCAACAAGCACTACTCCGGCC
- Phenotype
-
MIM: 609709
MIM: 603360
MIM: 608325
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LARGE2
PubMed Links
Gene Details
- Gene
- LARGE2
- Gene Name
- LARGE xylosyl- and glucuronyltransferase 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001300721.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
NP_001287650.1 |
| NM_001300722.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*138W |
NP_001287651.1 |
| NM_152312.4 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
NP_689525.3 |
| XM_005252787.2 |
603 |
UTR 5 |
|
|
XP_005252844.1 |
| XM_006718140.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*138W |
XP_006718203.1 |
| XM_006718141.3 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_006718204.1 |
| XM_011519886.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518188.1 |
| XM_011519888.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518190.1 |
| XM_011519889.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*138W |
XP_011518191.1 |
| XM_011519890.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518192.1 |
| XM_011519891.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518193.1 |
| XM_011519892.2 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518194.1 |
| XM_011519893.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_011518195.1 |
| XM_017017173.1 |
603 |
Nonsense Mutation |
TGA,TGG |
*169W |
XP_016872662.1 |
- Gene
- PEX16
- Gene Name
- peroxisomal biogenesis factor 16
There are no transcripts associated with this gene.
- Gene
- PHF21A
- Gene Name
- PHD finger protein 21A
There are no transcripts associated with this gene.
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