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CGGGCCCCAGGCCTGTGGTGCTGAG[C/T]GGGCCTTCGGGAGCTGGGAAGAGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 608803 MIM: 139270 | ||||||||||||||||||||
Literature Links: |
GJC2 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 |
GJC2 - gap junction protein gamma 2 | ||||||
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There are no transcripts associated with this gene. |
GUK1 - guanylate kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000858.5 | 168 | Silent Mutation | AGC,AGT | S,S 10 | NP_000849.1 | |
NM_001159390.1 | 168 | Silent Mutation | AGC,AGT | S,S 31 | NP_001152862.1 | |
NM_001159391.1 | 168 | Silent Mutation | AGC,AGT | S,S 10 | NP_001152863.1 | |
NM_001242839.1 | 168 | Silent Mutation | AGC,AGT | S,S 10 | NP_001229768.1 | |
NM_001242840.1 | 168 | Silent Mutation | AGC,AGT | S,S 31 | NP_001229769.1 | |
XM_005273103.3 | 168 | Silent Mutation | AGC,AGT | S,S 76 | XP_005273160.1 | |
XM_005273104.4 | 168 | Silent Mutation | AGC,AGT | S,S 76 | XP_005273161.1 | |
XM_005273105.3 | 168 | Silent Mutation | AGC,AGT | S,S 10 | XP_005273162.1 | |
XM_005273106.2 | 168 | Silent Mutation | AGC,AGT | S,S 10 | XP_005273163.1 | |
XM_011544174.2 | 168 | Silent Mutation | AGC,AGT | S,S 10 | XP_011542476.1 | |
XM_017001091.1 | 168 | Missense Mutation | CGG,TGG | R,W 35 | XP_016856580.1 | |
XM_017001092.1 | 168 | Missense Mutation | CGG,TGG | R,W 35 | XP_016856581.1 | |
XM_017001093.1 | 168 | UTR 5 | XP_016856582.1 | |||
XM_017001094.1 | 168 | UTR 5 | XP_016856583.1 | |||
XM_017001095.1 | 168 | UTR 5 | XP_016856584.1 | |||
XM_017001096.1 | 168 | UTR 5 | XP_016856585.1 |