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TGTGCTGGTCGAGAGTGGCGAGTCT[C/G]GGACAGAGACCCAGGCTGCTCCCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 238330 MIM: 607894 | ||||||||||||||||||||
Literature Links: |
GCSH 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 |
GCSH - glycine cleavage system protein H | ||||||
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There are no transcripts associated with this gene. |
PKD1L2 - polycystin 1 like 2 (gene/pseudogene) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001076780.1 | 7336 | Intron | NP_001070248.1 | |||
NM_001278423.1 | 7336 | Intron | NP_001265352.1 | |||
NM_001278425.1 | 7336 | Missense Mutation | CAG,GAG | Q,E 1761 | NP_001265354.1 | |
NM_052892.3 | 7336 | Missense Mutation | CAG,GAG | Q,E 2446 | NP_443124.3 |