Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAAGCCCGCCAGGATTAAATCCAGA[C/T]GGAGGTCTTCCCATCCCCTGATTTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608655 | ||||||||||||||||||||
Literature Links: |
GJC1 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 |
GJC1 - gap junction protein gamma 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080383.1 | 1448 | Missense Mutation | ATC,GTC | I,V 394 | NP_001073852.1 | |
NM_005497.3 | 1448 | Missense Mutation | ATC,GTC | I,V 394 | NP_005488.2 | |
XM_005256920.1 | 1448 | Missense Mutation | ATC,GTC | I,V 394 | XP_005256977.1 | |
XM_005256921.1 | 1448 | Missense Mutation | ATC,GTC | I,V 394 | XP_005256978.1 |