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CCTTACAATGAAGTCAAAGTGGGAA[A/C]CAGCAAGCATGAGCAGACCCAGCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 603673 | ||||||||||||||||||||
Literature Links: |
BTBD19 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 |
BTBD19 - BTB domain containing 19 | ||||||
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There are no transcripts associated with this gene. |
PTCH2 - patched 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166292.1 | 3245 | Missense Mutation | GGT,GTT | G,V 1078 | NP_001159764.1 | |
NM_003738.4 | 3245 | Missense Mutation | GGT,GTT | G,V 1078 | NP_003729.3 |