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- SNP ID:
- rs148051057
- Gene
-
RGN - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.X: 47084555 - 47084555 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GGTGGATAACGACAAGAAAAACAAT[C/T]GCTTCAATGATGGGAAGGTGGATCC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300212
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Literature Links: |
RGN 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
|
| RGN - regucalcin | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001282848.1 | 1291 | Missense Mutation | CGC,TGC | R,C 48 | NP_001269777.1 | |
| NM_001282849.1 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | NP_001269778.1 | |
| NM_004683.5 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | NP_004674.1 | |
| NM_152869.3 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | NP_690608.1 | |
| XM_006724567.2 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | XP_006724630.1 | |
| XM_006724568.2 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | XP_006724631.1 | |
| XM_017029954.1 | 1291 | Missense Mutation | CGC,TGC | R,C 101 | XP_016885443.1 | |
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