Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCATGGTCAATGTCTGCATCCCCC[A/G]TGATGACTATTCGCTTCTCAATTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605331 | ||||||||||||||||||||
Literature Links: |
EPB41L3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
EPB41L3 - erythrocyte membrane protein band 4.1 like 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281533.1 | 2886 | Missense Mutation | ACG,ATG | T,M 873 | NP_001268462.1 | |
NM_001281534.1 | 2886 | Missense Mutation | ACG,ATG | T,M 820 | NP_001268463.1 | |
NM_001281535.1 | 2886 | Missense Mutation | ACG,ATG | T,M 711 | NP_001268464.1 | |
NM_012307.3 | 2886 | Missense Mutation | ACG,ATG | T,M 1042 | NP_036439.2 | |
XM_011525623.2 | 2886 | Missense Mutation | ACG,ATG | T,M 898 | XP_011523925.1 | |
XM_011525626.2 | 2886 | Missense Mutation | ACG,ATG | T,M 886 | XP_011523928.1 | |
XM_011525628.2 | 2886 | Missense Mutation | ACG,ATG | T,M 873 | XP_011523930.1 | |
XM_011525632.2 | 2886 | Missense Mutation | ACG,ATG | T,M 857 | XP_011523934.1 | |
XM_011525634.2 | 2886 | Missense Mutation | ACG,ATG | T,M 836 | XP_011523936.1 | |
XM_011525637.2 | 2886 | Missense Mutation | ACG,ATG | T,M 802 | XP_011523939.1 | |
XM_017025618.1 | 2886 | Intron | XP_016881107.1 | |||
XM_017025619.1 | 2886 | Missense Mutation | ACG,ATG | T,M 886 | XP_016881108.1 | |
XM_017025620.1 | 2886 | Missense Mutation | ACG,ATG | T,M 845 | XP_016881109.1 | |
XM_017025621.1 | 2886 | Missense Mutation | ACG,ATG | T,M 843 | XP_016881110.1 | |
XM_017025622.1 | 2886 | Missense Mutation | ACG,ATG | T,M 880 | XP_016881111.1 | |
XM_017025623.1 | 2886 | Intron | XP_016881112.1 | |||
XM_017025624.1 | 2886 | Intron | XP_016881113.1 | |||
XM_017025625.1 | 2886 | Missense Mutation | ACG,ATG | T,M 873 | XP_016881114.1 | |
XM_017025626.1 | 2886 | Missense Mutation | ACG,ATG | T,M 861 | XP_016881115.1 | |
XM_017025627.1 | 2886 | Intron | XP_016881116.1 | |||
XM_017025628.1 | 2886 | Missense Mutation | ACG,ATG | T,M 861 | XP_016881117.1 | |
XM_017025629.1 | 2886 | Missense Mutation | ACG,ATG | T,M 855 | XP_016881118.1 | |
XM_017025630.1 | 2886 | Missense Mutation | ACG,ATG | T,M 855 | XP_016881119.1 | |
XM_017025631.1 | 2886 | Missense Mutation | ACG,ATG | T,M 843 | XP_016881120.1 | |
XM_017025632.1 | 2886 | Intron | XP_016881121.1 | |||
XM_017025633.1 | 2886 | Intron | XP_016881122.1 | |||
XM_017025634.1 | 2886 | Missense Mutation | ACG,ATG | T,M 832 | XP_016881123.1 | |
XM_017025635.1 | 2886 | Intron | XP_016881124.1 | |||
XM_017025636.1 | 2886 | Missense Mutation | ACG,ATG | T,M 873 | XP_016881125.1 | |
XM_017025637.1 | 2886 | Missense Mutation | ACG,ATG | T,M 832 | XP_016881126.1 | |
XM_017025638.1 | 2886 | Missense Mutation | ACG,ATG | T,M 820 | XP_016881127.1 | |
XM_017025639.1 | 2886 | Intron | XP_016881128.1 | |||
XM_017025640.1 | 2886 | Missense Mutation | ACG,ATG | T,M 824 | XP_016881129.1 | |
XM_017025641.1 | 2886 | Intron | XP_016881130.1 | |||
XM_017025642.1 | 2886 | Missense Mutation | ACG,ATG | T,M 855 | XP_016881131.1 | |
XM_017025643.1 | 2886 | Intron | XP_016881132.1 | |||
XM_017025644.1 | 2886 | Missense Mutation | ACG,ATG | T,M 802 | XP_016881133.1 | |
XM_017025645.1 | 2886 | Missense Mutation | ACG,ATG | T,M 789 | XP_016881134.1 | |
XM_017025646.1 | 2886 | Intron | XP_016881135.1 | |||
XM_017025647.1 | 2886 | Missense Mutation | ACG,ATG | T,M 777 | XP_016881136.1 | |
XM_017025648.1 | 2886 | Missense Mutation | ACG,ATG | T,M 764 | XP_016881137.1 | |
XM_017025649.1 | 2886 | Missense Mutation | ACG,ATG | T,M 771 | XP_016881138.1 | |
XM_017025650.1 | 2886 | Intron | XP_016881139.1 | |||
XM_017025651.1 | 2886 | Missense Mutation | ACG,ATG | T,M 752 | XP_016881140.1 | |
XM_017025652.1 | 2886 | Missense Mutation | ACG,ATG | T,M 746 | XP_016881141.1 | |
XM_017025653.1 | 2886 | Intron | XP_016881142.1 | |||
XM_017025654.1 | 2886 | Intron | XP_016881143.1 | |||
XM_017025655.1 | 2886 | Missense Mutation | ACG,ATG | T,M 734 | XP_016881144.1 | |
XM_017025656.1 | 2886 | Missense Mutation | ACG,ATG | T,M 764 | XP_016881145.1 | |
XM_017025657.1 | 2886 | Missense Mutation | ACG,ATG | T,M 723 | XP_016881146.1 | |
XM_017025658.1 | 2886 | Intron | XP_016881147.1 | |||
XM_017025659.1 | 2886 | Missense Mutation | ACG,ATG | T,M 711 | XP_016881148.1 | |
XM_017025660.1 | 2886 | Missense Mutation | ACG,ATG | T,M 705 | XP_016881149.1 |