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GTGGGTTAAAACATACCTTTTGACT[G/A]AGAAATAATTAATTCTATGTTGTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613323 | ||||||||||||||||||||
Literature Links: |
FRMPD2 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 |
FRMPD2 - FERM and PDZ domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018071.3 | 2547 | Nonsense Mutation | CAG,TAG | Q,* 859 | NP_001018081.3 | |
NM_001042512.2 | 2547 | Intron | NP_001035977.2 | |||
NM_001318191.1 | 2547 | Nonsense Mutation | CAG,TAG | Q,* 834 | NP_001305120.1 | |
XM_011539327.2 | 2547 | Intron | XP_011537629.1 | |||
XM_017015744.1 | 2547 | Intron | XP_016871233.1 |