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CTTATTGCCCCCACAGCGGAATCTT[C/T]TGCCTTGAAAAGAGAAAAGGAGATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601814 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FXYD2 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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FXYD2 - FXYD domain containing ion transport regulator 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001680.4 | 822 | Missense Mutation | AAA,AGA | K,R 48 | NP_001671.2 | |
NM_021603.3 | 822 | Missense Mutation | AAA,AGA | K,R 46 | NP_067614.1 |
FXYD6-FXYD2 - FXYD6-FXYD2 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204268.1 | 822 | Missense Mutation | AAA,AGA | K,R 126 | NP_001191197.1 | |
NM_001243598.2 | 822 | Silent Mutation | CAA,CAG | Q,Q 105 | NP_001230527.1 |