Product Details
- SNP ID
-
rs138085112
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:135287201 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGTTTCTGGTGTCTAAGAAGGCTC[A/G]ATCGCCTACTAAAGTTTCTCTTGCA
- Phenotype
-
MIM: 314997
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ZNF75D
PubMed Links
Gene Details
- Gene
- ZNF75D
- Gene Name
- zinc finger protein 75D
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001185063.2 |
3308 |
Intron |
|
|
NP_001171992.1 |
NM_007131.4 |
3308 |
Missense Mutation |
TCG,TTG |
S490L |
NP_009062.2 |
XM_005262469.1 |
3308 |
Missense Mutation |
TCG,TTG |
S490L |
XP_005262526.1 |
XM_005262471.3 |
3308 |
Missense Mutation |
TCG,TTG |
S283L |
XP_005262528.1 |
XM_011531391.1 |
3308 |
Missense Mutation |
TCG,TTG |
S490L |
XP_011529693.1 |
XM_011531395.2 |
3308 |
Missense Mutation |
TCG,TTG |
S340L |
XP_011529697.1 |
XM_011531396.2 |
3308 |
Missense Mutation |
TCG,TTG |
S322L |
XP_011529698.1 |
XM_011531397.2 |
3308 |
Missense Mutation |
TCG,TTG |
S319L |
XP_011529699.1 |
XM_017029818.1 |
3308 |
Missense Mutation |
TCG,TTG |
S344L |
XP_016885307.1 |
XM_017029819.1 |
3308 |
Missense Mutation |
TCG,TTG |
S356L |
XP_016885308.1 |
XM_017029820.1 |
3308 |
Missense Mutation |
TCG,TTG |
S319L |
XP_016885309.1 |
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