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AGTGGGGGAATCAGCTTGGGCATTG[C/T]TGGAAAGTCTCCAAAGCAGACCTAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605367 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGAP44 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ARHGAP44 - Rho GTPase activating protein 44 | ||||||
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There are no transcripts associated with this gene. |
ELAC2 - elaC ribonuclease Z 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165962.1 | 2389 | Missense Mutation | ACA,GCA | T,A 719 | NP_001159434.1 | |
NM_018127.6 | 2389 | Missense Mutation | ACA,GCA | T,A 759 | NP_060597.4 | |
NM_173717.1 | 2389 | Missense Mutation | ACA,GCA | T,A 758 | NP_776065.1 |