Product Details
- SNP ID
-
rs74853621
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:6436449 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATGGTCCTCTCCATAAGGCTGCTC[A/G]TGGCATGACCACCGGCTTCCTCCAG
- Phenotype
-
MIM: 608746
MIM: 610822
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SLC25A23
PubMed Links
Gene Details
- Gene
- SLC25A23
- Gene Name
- solute carrier family 25 member 23
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_024103.2 |
1663 |
Intron |
|
|
NP_077008.2 |
XM_011528274.1 |
1663 |
Silent Mutation |
CAC,CAT |
H582H |
XP_011526576.1 |
XM_011528275.1 |
1663 |
Silent Mutation |
CAC,CAT |
H535H |
XP_011526577.1 |
XM_011528276.1 |
1663 |
Silent Mutation |
CAC,CAT |
H526H |
XP_011526578.1 |
XM_011528277.1 |
1663 |
Missense Mutation |
ACG,ATG |
T551M |
XP_011526579.1 |
XM_011528279.1 |
1663 |
Silent Mutation |
CAC,CAT |
H490H |
XP_011526581.1 |
XM_011528280.1 |
1663 |
Silent Mutation |
CAC,CAT |
H489H |
XP_011526582.1 |
XM_011528281.1 |
1663 |
Intron |
|
|
XP_011526583.1 |
XM_011528282.1 |
1663 |
Silent Mutation |
CAC,CAT |
H461H |
XP_011526584.1 |
XM_011528284.1 |
1663 |
Missense Mutation |
ACG,ATG |
T460M |
XP_011526586.1 |
XM_011528285.1 |
1663 |
Intron |
|
|
XP_011526587.1 |
XM_017027285.1 |
1663 |
Silent Mutation |
CAC,CAT |
H520H |
XP_016882774.1 |
XM_017027286.1 |
1663 |
Silent Mutation |
CAC,CAT |
H479H |
XP_016882775.1 |
XM_017027287.1 |
1663 |
Silent Mutation |
CAC,CAT |
H443H |
XP_016882776.1 |
XM_017027288.1 |
1663 |
Silent Mutation |
CAC,CAT |
H442H |
XP_016882777.1 |
XM_017027289.1 |
1663 |
Intron |
|
|
XP_016882778.1 |
XM_017027290.1 |
1663 |
Intron |
|
|
XP_016882779.1 |
XM_017027291.1 |
1663 |
Intron |
|
|
XP_016882780.1 |
XM_017027292.1 |
1663 |
Missense Mutation |
ACG,ATG |
T357M |
XP_016882781.1 |
- Gene
- SLC25A41
- Gene Name
- solute carrier family 25 member 41
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