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- SNP ID:
- rs78522977
- Gene
-
GRIK5 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.19: 42021391 - 42021391 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
GCCCCCCACGGGAAACCACAGGCTG[G/T]TGCCCAGCGTGTACTGGTTCTCCAG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600283
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Literature Links: |
GRIK5 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 |
| GRIK5 - glutamate ionotropic receptor kainate type subunit 5 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001301030.1 | 3233 | Missense Mutation | AAC,ACC | N,T 594 | NP_001287959.1 | |
| NM_002088.4 | 3233 | Missense Mutation | AAC,ACC | N,T 594 | NP_002079.3 | |
| XM_005258821.3 | 3233 | Missense Mutation | AAC,ACC | N,T 594 | XP_005258878.1 | |
| XM_011526862.2 | 3233 | Missense Mutation | AAC,ACC | N,T 595 | XP_011525164.1 | |
| XM_011526863.2 | 3233 | Missense Mutation | AAC,ACC | N,T 594 | XP_011525165.1 | |
| XM_011526865.1 | 3233 | Missense Mutation | AAC,ACC | N,T 595 | XP_011525167.1 | |
| XM_011526867.1 | 3233 | Missense Mutation | AAC,ACC | N,T 526 | XP_011525169.1 | |
| XM_011526868.1 | 3233 | Missense Mutation | AAC,ACC | N,T 514 | XP_011525170.1 | |
| XM_011526869.2 | 3233 | Missense Mutation | AAC,ACC | N,T 595 | XP_011525171.1 | |
| XM_011526870.2 | 3233 | Intron | XP_011525172.1 | |||
| XM_011526871.2 | 3233 | Intron | XP_011525173.1 | |||
| XM_017026713.1 | 3233 | Missense Mutation | AAC,ACC | N,T 527 | XP_016882202.1 | |
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