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GAGGAACAGATCTTCCTGCTGCACC[A/G]TGCTCAGGCCCAGTGCGAAAAACGG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 168468 | |||||||||||||||||||||||
Literature Links: |
PTH1R PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
PTH1R - parathyroid hormone 1 receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000316.2 | 480 | Missense Mutation | CAT,CGT | H,R 43 | NP_000307.1 | |
NM_001184744.1 | 480 | Missense Mutation | CAT,CGT | H,R 43 | NP_001171673.1 | |
XM_005265344.3 | 480 | Missense Mutation | CAT,CGT | H,R 12 | XP_005265401.1 | |
XM_011533967.2 | 480 | Missense Mutation | CAT,CGT | H,R 43 | XP_011532269.1 | |
XM_011533968.2 | 480 | Missense Mutation | CAT,CGT | H,R 37 | XP_011532270.1 | |
XM_017006932.1 | 480 | Missense Mutation | CAT,CGT | H,R 43 | XP_016862421.1 | |
XM_017006933.1 | 480 | Missense Mutation | CAT,CGT | H,R 43 | XP_016862422.1 | |
XM_017006934.1 | 480 | Missense Mutation | CAT,CGT | H,R 43 | XP_016862423.1 |