Product Details
- SNP ID
-
rs199931058
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:144841605 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGTTCCCAAGACCTTCACCAAGGA[C/T]GCACCCCAGGGATGTAAGGAGCTGG
- Phenotype
-
MIM: 608216
MIM: 194531
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
COMMD5
PubMed Links
Gene Details
- Gene
- COMMD5
- Gene Name
- COMM domain containing 5
- Gene
- ZNF7
- Gene Name
- zinc finger protein 7
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001282795.1 |
575 |
Silent Mutation |
GAC,GAT |
D177D |
NP_001269724.1 |
NM_001282796.1 |
575 |
Intron |
|
|
NP_001269725.1 |
NM_001282797.1 |
575 |
Silent Mutation |
GAC,GAT |
D70D |
NP_001269726.1 |
NM_003416.3 |
575 |
Silent Mutation |
GAC,GAT |
D166D |
NP_003407.1 |
XM_006716654.2 |
575 |
Silent Mutation |
GAC,GAT |
D70D |
XP_006716717.1 |
XM_006716656.3 |
575 |
Silent Mutation |
GAC,GAT |
D70D |
XP_006716719.1 |
XM_011517291.2 |
575 |
Silent Mutation |
GAC,GAT |
D183D |
XP_011515593.1 |
XM_011517292.2 |
575 |
Silent Mutation |
GAC,GAT |
D177D |
XP_011515594.1 |
XM_011517293.2 |
575 |
Silent Mutation |
GAC,GAT |
D166D |
XP_011515595.1 |
XM_011517294.2 |
575 |
Silent Mutation |
GAC,GAT |
D166D |
XP_011515596.1 |
XM_011517295.2 |
575 |
Silent Mutation |
GAC,GAT |
D165D |
XP_011515597.1 |
XM_011517296.2 |
575 |
Silent Mutation |
GAC,GAT |
D165D |
XP_011515598.1 |
XM_011517297.2 |
575 |
Silent Mutation |
GAC,GAT |
D70D |
XP_011515599.1 |
XM_017013813.1 |
575 |
Silent Mutation |
GAC,GAT |
D182D |
XP_016869302.1 |
XM_017013814.1 |
575 |
Silent Mutation |
GAC,GAT |
D187D |
XP_016869303.1 |
XM_017013815.1 |
575 |
Silent Mutation |
GAC,GAT |
D186D |
XP_016869304.1 |
XM_017013816.1 |
575 |
Intron |
|
|
XP_016869305.1 |
XM_017013817.1 |
575 |
Intron |
|
|
XP_016869306.1 |
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