Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTCACCTCTCCTATCGTCTCCACC[C/T]ACCTGGACACTCGTAATGTGGCCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615126 MIM: 109635 | ||||||||||||||||||||
Literature Links: |
ANKRD13D 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 |
ANKRD13D - ankyrin repeat domain 13D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207354.2 | 133 | Missense Mutation | CAC,TAC | H,Y 234 | NP_997237.2 | |
XM_011544985.1 | 133 | Missense Mutation | CAC,TAC | H,Y 234 | XP_011543287.1 | |
XM_011544986.1 | 133 | Missense Mutation | CAC,TAC | H,Y 147 | XP_011543288.1 | |
XM_011544987.2 | 133 | Missense Mutation | CAC,TAC | H,Y 147 | XP_011543289.1 | |
XM_011544988.2 | 133 | UTR 5 | XP_011543290.1 |
GRK2 - G protein-coupled receptor kinase 2 | ||||||
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There are no transcripts associated with this gene. |