Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCCGCTGCCGCTTGCACTTGTAGC[G/A]CCGGTTCTGGAACCAGATCTTGACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600584 | ||||||||||||||||||||
Literature Links: |
NKX2-5 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 |
NKX2-5 - NK2 homeobox 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166175.1 | 1052 | UTR 3 | NP_001159647.1 | |||
NM_001166176.1 | 1052 | UTR 3 | NP_001159648.1 | |||
NM_004387.3 | 1052 | Missense Mutation | CGC,TGC | R,C 190 | NP_004378.1 | |
XM_017009071.1 | 1052 | Intron | XP_016864560.1 |