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CTTTGTCTTGGATACTATGGGAGCA[A/C]AACGGTAGCCCCAAAGCACCTCCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600359 | ||||||||||||||||||||
Literature Links: |
KCNJ1 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 |
KCNJ1 - potassium voltage-gated channel subfamily J member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000220.4 | 1309 | Missense Mutation | TGT,TTT | C,F 325 | NP_000211.1 | |
NM_153764.2 | 1309 | Missense Mutation | TGT,TTT | C,F 306 | NP_722448.1 | |
NM_153765.2 | 1309 | Missense Mutation | TGT,TTT | C,F 323 | NP_722449.3 | |
NM_153766.2 | 1309 | Missense Mutation | TGT,TTT | C,F 306 | NP_722450.1 | |
NM_153767.3 | 1309 | Missense Mutation | TGT,TTT | C,F 306 | NP_722451.1 |