Product Details
- SNP ID
-
rs138607842
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:1348108 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTCTAGATATGGATCAGAAACTTT[C/T]GAAGTTGGTAGAAGAGCTCACAACT
- Phenotype
-
MIM: 606801
MIM: 614632
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MAEA
PubMed Links
Gene Details
- Gene
- MAEA
- Gene Name
- macrophage erythroblast attacher
There are no transcripts associated with this gene.
- Gene
- UVSSA
- Gene Name
- UV stimulated scaffold protein A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001317934.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
NP_001304863.1 |
| NM_001317935.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
NP_001304864.1 |
| NM_020894.3 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
NP_065945.2 |
| XM_017008490.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863979.1 |
| XM_017008491.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863980.1 |
| XM_017008492.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863981.1 |
| XM_017008493.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863982.1 |
| XM_017008494.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863983.1 |
| XM_017008495.1 |
787 |
Intron |
|
|
XP_016863984.1 |
| XM_017008496.1 |
787 |
Missense Mutation |
TCG,TTG |
S115L |
XP_016863985.1 |
| XM_017008497.1 |
787 |
Missense Mutation |
TCG,TTG |
S115L |
XP_016863986.1 |
| XM_017008498.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863987.1 |
| XM_017008499.1 |
787 |
Missense Mutation |
TCG,TTG |
S6L |
XP_016863988.1 |
| XM_017008500.1 |
787 |
Intron |
|
|
XP_016863989.1 |
View Full Product Details