Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGGTGGAGCTGCCCGCCTCGTTCC[A/G]GGAGCTGCTCACCTTCTTCTGCACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 601328 | ||||||||||||||||||||
Literature Links: |
ACAP3 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 |
ACAP3 - ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 | ||||||
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There are no transcripts associated with this gene. |
SCNN1D - sodium channel epithelial 1 delta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130413.3 | 699 | Missense Mutation | CAG,CGG | Q,R 221 | NP_001123885.2 | |
XM_011541899.2 | 699 | Missense Mutation | CAG,CGG | Q,R 314 | XP_011540201.1 | |
XM_011541901.2 | 699 | Missense Mutation | CAG,CGG | Q,R 278 | XP_011540203.1 | |
XM_011541902.2 | 699 | Missense Mutation | CAG,CGG | Q,R 270 | XP_011540204.1 | |
XM_011541905.2 | 699 | Missense Mutation | CAG,CGG | Q,R 246 | XP_011540207.1 | |
XM_011541906.2 | 699 | Missense Mutation | CAG,CGG | Q,R 235 | XP_011540208.1 | |
XM_011541908.2 | 699 | Missense Mutation | CAG,CGG | Q,R 214 | XP_011540210.1 | |
XM_011541920.2 | 699 | Missense Mutation | CAG,CGG | Q,R 155 | XP_011540222.1 | |
XM_011541925.2 | 699 | Missense Mutation | CAG,CGG | Q,R 123 | XP_011540227.1 | |
XM_011541929.2 | 699 | Missense Mutation | CAG,CGG | Q,R 115 | XP_011540231.1 | |
XM_011541932.2 | 699 | Missense Mutation | CAG,CGG | Q,R 57 | XP_011540234.1 | |
XM_011541933.2 | 699 | Missense Mutation | CAG,CGG | Q,R 57 | XP_011540235.1 | |
XM_017002037.1 | 699 | Missense Mutation | CAG,CGG | Q,R 314 | XP_016857526.1 | |
XM_017002038.1 | 699 | Missense Mutation | CAG,CGG | Q,R 265 | XP_016857527.1 | |
XM_017002039.1 | 699 | Missense Mutation | CAG,CGG | Q,R 229 | XP_016857528.1 | |
XM_017002040.1 | 699 | Missense Mutation | CAG,CGG | Q,R 183 | XP_016857529.1 | |
XM_017002041.1 | 699 | Missense Mutation | CAG,CGG | Q,R 179 | XP_016857530.1 | |
XM_017002042.1 | 699 | Missense Mutation | CAG,CGG | Q,R 176 | XP_016857531.1 | |
XM_017002043.1 | 699 | Missense Mutation | CAG,CGG | Q,R 168 | XP_016857532.1 | |
XM_017002044.1 | 699 | Missense Mutation | CAG,CGG | Q,R 151 | XP_016857533.1 |