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- SNP ID:
- rs200073118
- Gene
-
MECOM - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 169084974 - 169084974 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
GCAGCCCTGGCCATACTGTGCCACA[C/G]GTTGGAAGAACTGTGGGATGTAGAA
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 165215
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Literature Links: |
MECOM PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
| EUR - Not Available | |||||
| AMR - Not Available |
| MECOM - MDS1 and EVI1 complex locus | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001105077.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1096 | NP_001098547.3 | |
| NM_001105078.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1031 | NP_001098548.2 | |
| NM_001163999.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1023 | NP_001157471.1 | |
| NM_001164000.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1022 | NP_001157472.1 | |
| NM_001205194.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1031 | NP_001192123.1 | |
| NM_004991.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1219 | NP_004982.2 | |
| NM_005241.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1031 | NP_005232.2 | |
| XM_005247213.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1220 | XP_005247270.1 | |
| XM_005247214.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1211 | XP_005247271.1 | |
| XM_005247215.3 | 3356 | Missense Mutation | CTG,GTG | L,V 1210 | XP_005247272.1 | |
| XM_005247219.2 | 3356 | Missense Mutation | CTG,GTG | L,V 1032 | XP_005247276.1 | |
| XM_005247220.2 | 3356 | Missense Mutation | CTG,GTG | L,V 1032 | XP_005247277.1 | |
| XM_005247221.2 | 3356 | Missense Mutation | CTG,GTG | L,V 1032 | XP_005247278.1 | |
| XM_005247223.2 | 3356 | Missense Mutation | CTG,GTG | L,V 1031 | XP_005247280.1 | |
| XM_005247224.3 | 3356 | Missense Mutation | CTG,GTG | L,V 896 | XP_005247281.1 | |
| XM_005247225.3 | 3356 | Missense Mutation | CTG,GTG | L,V 895 | XP_005247282.1 | |
| XM_005247226.3 | 3356 | Missense Mutation | CTG,GTG | L,V 886 | XP_005247283.1 | |
| XM_011512546.2 | 3356 | Missense Mutation | CTG,GTG | L,V 1104 | XP_011510848.1 | |
| XM_017005874.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1096 | XP_016861363.1 | |
| XM_017005875.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1022 | XP_016861364.1 | |
| XM_017005876.1 | 3356 | Missense Mutation | CTG,GTG | L,V 1023 | XP_016861365.1 | |
| XM_017005877.1 | 3356 | Missense Mutation | CTG,GTG | L,V 887 | XP_016861366.1 | |
| XM_017005878.1 | 3356 | Missense Mutation | CTG,GTG | L,V 698 | XP_016861367.1 | |
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