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- SNP ID:
- rs369969308
- Gene
-
AP1G1SNORD71 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.16: 71749899 - 71749899 on Build GRCh38
- Polymorphism:
- T/C, Transition substitution
- Context Sequence [VIC/FAM]:
CCAAGAGTGACAAGGAGTACCTGAA[T/C]AGGCTCTTCCTCTTCACACTGGCCA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603533
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Literature Links: |
AP1G1 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 |
| AP1G1 - adaptor related protein complex 1 gamma 1 subunit | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001030007.1 | 1806 | Missense Mutation | ATT,GTT | I,V 501 | NP_001025178.1 | |
| NM_001128.5 | 1806 | Missense Mutation | ATT,GTT | I,V 498 | NP_001119.3 | |
| SNORD71 - small nucleolar RNA, C/D box 71 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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