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- SNP ID:
- rs201305219
- Gene
-
GJA4GJB3 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 34794432 - 34794432 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GCTATGACCAGGCCTTCCCCATCTC[C/T]CACATCCGCTACTGGGTGCTGCAGT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
|
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Phenotype: |
MIM: 121012
MIM: 603324
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Literature Links: |
GJA4 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 |
| GJA4 - gap junction protein alpha 4 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_002060.2 | 476 | Silent Mutation | TCC,TCT | S,S 73 | NP_002051.2 | |
| XM_005270750.2 | 476 | Silent Mutation | TCC,TCT | S,S 73 | XP_005270807.1 | |
| XM_017001043.1 | 476 | Silent Mutation | TCC,TCT | S,S 73 | XP_016856532.1 | |
| GJB3 - gap junction protein beta 3 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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