Product Details
- SNP ID
-
rs144024165
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:39736969 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCTGTGTGACTGTCCTTGGAATT[C/G]AAAGGGATGTTGCTCTCTTTACAAT
- Phenotype
-
MIM: 611751
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
THUMPD2
PubMed Links
Gene Details
- Gene
- THUMPD2
- Gene Name
- THUMP domain containing 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001321468.1 |
1413 |
UTR 3 |
|
|
NP_001308397.1 |
| NM_001321469.1 |
1413 |
Missense Mutation |
TTC,TTG |
F333L |
NP_001308398.1 |
| NM_001321470.1 |
1413 |
Missense Mutation |
TTC,TTG |
F317L |
NP_001308399.1 |
| NM_001321474.1 |
1413 |
UTR 3 |
|
|
NP_001308403.1 |
| NM_001321475.1 |
1413 |
UTR 3 |
|
|
NP_001308404.1 |
| NM_001321477.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
NP_001308406.1 |
| NM_001321478.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
NP_001308407.1 |
| NM_001321479.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
NP_001308408.1 |
| NM_001321480.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
NP_001308409.1 |
| NM_001321481.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
NP_001308410.1 |
| NM_025264.4 |
1413 |
Missense Mutation |
TTC,TTG |
F426L |
NP_079540.2 |
| XM_011533119.2 |
1413 |
Missense Mutation |
TTC,TTG |
F218L |
XP_011531421.1 |
| XM_017005050.1 |
1413 |
Missense Mutation |
TTC,TTG |
F410L |
XP_016860539.1 |
| XM_017005051.1 |
1413 |
UTR 3 |
|
|
XP_016860540.1 |
| XM_017005052.1 |
1413 |
Intron |
|
|
XP_016860541.1 |
| XM_017005053.1 |
1413 |
Intron |
|
|
XP_016860542.1 |
| XM_017005054.1 |
1413 |
Missense Mutation |
TTC,TTG |
F192L |
XP_016860543.1 |
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