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GTCGTGGTCATCAAAGCAGTGTCCT[C/T]AGGCTTCTACGTGGCCATGAACCGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605831 MIM: 601778 MIM: 615177 | ||||||||||||||||||||
Literature Links: |
FGF22 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 |
FGF22 - fibroblast growth factor 22 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300812.1 | 303 | Missense Mutation | TCA,TTA | S,L 91 | NP_001287741.1 | |
NM_020637.1 | 303 | Missense Mutation | TCA,TTA | S,L 91 | NP_065688.1 |
POLRMT - RNA polymerase mitochondrial | ||||||
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There are no transcripts associated with this gene. |
RNF126 - ring finger protein 126 | ||||||
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There are no transcripts associated with this gene. |