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CGAAGTTCACGAAGTTGTTGTTGGC[A/G]GCGGCAGTGGCCGGCTGCGCTGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600584 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NKX2-5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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NKX2-5 - NK2 homeobox 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166175.1 | 1345 | UTR 3 | NP_001159647.1 | |||
NM_001166176.1 | 1345 | UTR 3 | NP_001159648.1 | |||
NM_004387.3 | 1345 | Silent Mutation | GCC,GCT | A,A 287 | NP_004378.1 | |
XM_017009071.1 | 1345 | Intron | XP_016864560.1 |