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CCTTAATTCATCTTCTGATTTTAAT[C/T]TTCTTCGAACAGGTTTAGGTGGTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614825 | ||||||||||||||||||||
Literature Links: |
ECT2L PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
ECT2L - epithelial cell transforming 2 like | ||||||
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There are no transcripts associated with this gene. |
REPS1 - RALBP1 associated Eps domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128617.2 | 2423 | Missense Mutation | AAA,AGA | K,R 679 | NP_001122089.1 | |
NM_001286611.1 | 2423 | Missense Mutation | AAA,AGA | K,R 706 | NP_001273540.1 | |
NM_001286612.1 | 2423 | Missense Mutation | AAA,AGA | K,R 615 | NP_001273541.1 | |
NM_031922.4 | 2423 | Missense Mutation | AAA,AGA | K,R 705 | NP_114128.3 | |
XM_005267177.3 | 2423 | Missense Mutation | AAA,AGA | K,R 705 | XP_005267234.1 | |
XM_005267178.4 | 2423 | Missense Mutation | AAA,AGA | K,R 706 | XP_005267235.1 | |
XM_005267179.3 | 2423 | Missense Mutation | AAA,AGA | K,R 678 | XP_005267236.1 | |
XM_011536202.2 | 2423 | Missense Mutation | AAA,AGA | K,R 661 | XP_011534504.1 | |
XM_017011387.1 | 2423 | Missense Mutation | AAA,AGA | K,R 704 | XP_016866876.1 | |
XM_017011388.1 | 2423 | Missense Mutation | AAA,AGA | K,R 661 | XP_016866877.1 | |
XM_017011389.1 | 2423 | Missense Mutation | AAA,AGA | K,R 634 | XP_016866878.1 |