Product Details
- SNP ID
-
rs200480885
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
4
- Location
-
Chr.1:43993899 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACTTCATTGCCAGCAGCGGTCACAG[A/G]GATCTCAGCATCATCAAGGACCAAC
- Phenotype
-
MIM: 604013
MIM: 601019
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
B4GALT2
PubMed Links
Gene Details
- Gene
- B4GALT2
- Gene Name
- beta-1,4-galactosyltransferase 2
There are no transcripts associated with this gene.
- Gene
- CCDC24
- Gene Name
- coiled-coil domain containing 24
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_152499.2 |
466 |
Silent Mutation |
AGA,AGG |
R144R |
NP_689712.1 |
| XM_017000423.1 |
466 |
Silent Mutation |
AGA,AGG |
R225R |
XP_016855912.1 |
| XM_017000424.1 |
466 |
Silent Mutation |
AGA,AGG |
R225R |
XP_016855913.1 |
| XM_017000425.1 |
466 |
Silent Mutation |
AGA,AGG |
R225R |
XP_016855914.1 |
| XM_017000426.1 |
466 |
Silent Mutation |
AGA,AGG |
R194R |
XP_016855915.1 |
| XM_017000427.1 |
466 |
Silent Mutation |
AGA,AGG |
R193R |
XP_016855916.1 |
| XM_017000428.1 |
466 |
Silent Mutation |
AGA,AGG |
R192R |
XP_016855917.1 |
| XM_017000429.1 |
466 |
Silent Mutation |
AGA,AGG |
R189R |
XP_016855918.1 |
| XM_017000430.1 |
466 |
Silent Mutation |
AGA,AGG |
R192R |
XP_016855919.1 |
| XM_017000431.1 |
466 |
Silent Mutation |
AGA,AGG |
R156R |
XP_016855920.1 |
| XM_017000432.1 |
466 |
Silent Mutation |
AGA,AGG |
R145R |
XP_016855921.1 |
| XM_017000433.1 |
466 |
Silent Mutation |
AGA,AGG |
R144R |
XP_016855922.1 |
| XM_017000434.1 |
466 |
Silent Mutation |
AGA,AGG |
R143R |
XP_016855923.1 |
| XM_017000435.1 |
466 |
Silent Mutation |
AGA,AGG |
R140R |
XP_016855924.1 |
| XM_017000436.1 |
466 |
Silent Mutation |
AGA,AGG |
R140R |
XP_016855925.1 |
| XM_017000437.1 |
466 |
Silent Mutation |
AGA,AGG |
R126R |
XP_016855926.1 |
| XM_017000438.1 |
466 |
Silent Mutation |
AGA,AGG |
R121R |
XP_016855927.1 |
| XM_017000439.1 |
466 |
Silent Mutation |
AGA,AGG |
R113R |
XP_016855928.1 |
| XM_017000440.1 |
466 |
Silent Mutation |
AGA,AGG |
R108R |
XP_016855929.1 |
| XM_017000441.1 |
466 |
Silent Mutation |
AGA,AGG |
R108R |
XP_016855930.1 |
| XM_017000442.1 |
466 |
Silent Mutation |
AGA,AGG |
R68R |
XP_016855931.1 |
| XM_017000443.1 |
466 |
UTR 3 |
|
|
XP_016855932.1 |
| XM_017000444.1 |
466 |
Intron |
|
|
XP_016855933.1 |
| XM_017000445.1 |
466 |
Silent Mutation |
AGA,AGG |
R11R |
XP_016855934.1 |
| XM_017000446.1 |
466 |
Silent Mutation |
AGA,AGG |
R10R |
XP_016855935.1 |
- Gene
- SLC6A9
- Gene Name
- solute carrier family 6 member 9
There are no transcripts associated with this gene.
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