Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACAACTCTGCCACGTTAAGCAGCA[C/T]GCAAATCACAGACGCAGAAATCATA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604418 | ||||||||||||||||||||
Literature Links: |
GJB6 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 |
GJB6 - gap junction protein beta 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001110219.2 | 920 | Missense Mutation | ATG,GTG | M,V 203 | NP_001103689.1 | |
NM_001110220.2 | 920 | Missense Mutation | ATG,GTG | M,V 203 | NP_001103690.1 | |
NM_001110221.2 | 920 | Missense Mutation | ATG,GTG | M,V 203 | NP_001103691.1 | |
NM_006783.4 | 920 | Missense Mutation | ATG,GTG | M,V 203 | NP_006774.2 | |
XM_017020357.1 | 920 | Missense Mutation | ATG,GTG | M,V 203 | XP_016875846.1 | |
XM_017020358.1 | 920 | Missense Mutation | ATG,GTG | M,V 203 | XP_016875847.1 | |
XM_017020359.1 | 920 | Missense Mutation | ATG,GTG | M,V 203 | XP_016875848.1 | |
XM_017020360.1 | 920 | Missense Mutation | ATG,GTG | M,V 203 | XP_016875849.1 |