Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGATCTGACTCTGGAAGCTTGGC[A/C]ATCAACAGACAAGACCAAGCGGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 300391 MIM: 300118 | ||||||||||||||||||||
Literature Links: |
AMELX 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 |
AMELX - amelogenin, X-linked | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142.2 | 1708 | Missense Mutation | CAA,CCA | Q,P 180 | NP_001133.1 | |
NM_182680.1 | 1708 | Missense Mutation | CAA,CCA | Q,P 194 | NP_872621.1 | |
NM_182681.1 | 1708 | Missense Mutation | CAA,CCA | Q,P 164 | NP_872622.1 | |
XM_017029404.1 | 1708 | Missense Mutation | CAA,CCA | Q,P 180 | XP_016884893.1 |
ARHGAP6 - Rho GTPase activating protein 6 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287242.1 | 1708 | Intron | NP_001274171.1 | |||
NM_006125.2 | 1708 | Intron | NP_006116.2 | |||
NM_013423.2 | 1708 | Intron | NP_038267.1 | |||
NM_013427.2 | 1708 | Intron | NP_038286.2 |