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- SNP ID:
- rs79617622
- Gene
-
CNSTTFB2M - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 246569776 - 246569776 on Build GRCh38
- Polymorphism:
- A/C, Transversion substitution
- Context Sequence [VIC/FAM]:
TTAACGTTGAGCCCCATGCTTGTTT[A/C]ATGAGGCTCATAAGATGAATAGTGT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
10 submissions
|
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Phenotype: |
MIM: 613439
MIM: 607055
|
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Literature Links: |
CNST PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| CNST - consortin, connexin sorting protein | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001139459.1 | Intron | NP_001132931.1 | ||||
| NM_152609.2 | Intron | NP_689822.2 | ||||
| XM_005273081.3 | Intron | XP_005273138.2 | ||||
| XM_005273083.4 | Intron | XP_005273140.1 | ||||
| XM_011544110.2 | Intron | XP_011542412.1 | ||||
| XM_011544111.1 | Intron | XP_011542413.1 | ||||
| XM_011544112.1 | Intron | XP_011542414.1 | ||||
| XM_011544113.1 | Intron | XP_011542415.1 | ||||
| XM_011544114.2 | Intron | XP_011542416.1 | ||||
| XM_017000487.1 | Intron | XP_016855976.1 | ||||
| XM_017000488.1 | Intron | XP_016855977.1 | ||||
| XM_017000489.1 | Intron | XP_016855978.1 | ||||
| TFB2M - transcription factor B2, mitochondrial | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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