Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCTCCGGCTGCCAGAGCAGTCTG[C/G]GCCCCGCCGCCGTGCGCCCCGCTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605173 MIM: 606873 | ||||||||||||||||||||
Literature Links: |
ENC1 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 |
ENC1 - ectodermal-neural cortex 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256574.1 | 697 | UTR 5 | NP_001243503.1 | |||
NM_001256575.1 | 697 | UTR 5 | NP_001243504.1 | |||
NM_001256576.1 | 697 | UTR 5 | NP_001243505.1 | |||
NM_003633.3 | 697 | UTR 5 | NP_003624.1 |
HEXB - hexosaminidase subunit beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000521.3 | 697 | Intron | NP_000512.1 | |||
NM_001292004.1 | 697 | Intron | NP_001278933.1 |