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CATGTGTCACACTGATAGGGTTTCT[C/G]ACCAGTGTGGATTTTCTGATGTTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611643 | ||||||||||||||||||||
Literature Links: |
ZKSCAN4 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 |
ZKSCAN4 - zinc finger with KRAB and SCAN domains 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304506.1 | 2545 | Missense Mutation | CAG,GAG | Q,E 357 | NP_001291435.1 | |
NM_019110.4 | 2545 | Missense Mutation | CAG,GAG | Q,E 512 | NP_061983.2 | |
XM_005249095.3 | 2545 | Missense Mutation | CAG,GAG | Q,E 512 | XP_005249152.1 | |
XM_005249097.3 | 2545 | Missense Mutation | CAG,GAG | Q,E 409 | XP_005249154.1 | |
XM_005249098.3 | 2545 | Missense Mutation | CAG,GAG | Q,E 409 | XP_005249155.1 | |
XM_005249100.4 | 2545 | Missense Mutation | CAG,GAG | Q,E 385 | XP_005249157.2 | |
XM_006715095.3 | 2545 | Missense Mutation | CAG,GAG | Q,E 375 | XP_006715158.1 | |
XM_011514588.2 | 2545 | Missense Mutation | CAG,GAG | Q,E 483 | XP_011512890.1 | |
XM_011514589.2 | 2545 | Missense Mutation | CAG,GAG | Q,E 357 | XP_011512891.1 | |
XM_017010844.1 | 2545 | Missense Mutation | CAG,GAG | Q,E 357 | XP_016866333.1 |