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GGGACAGTTAGATGTGCACAAATGC[A/C]CCATGTGTTTAAAGATCACCAAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608121 MIM: 612058 | ||||||||||||||||||||
Literature Links: |
PARVB 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 |
PARVB - parvin beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003828.2 | 135 | Missense Mutation | CAC,CCC | H,P 2 | NP_001003828.1 | |
NM_001243385.1 | 135 | Intron | NP_001230314.1 | |||
NM_001243386.1 | 135 | Intron | NP_001230315.1 | |||
NM_013327.4 | 135 | Intron | NP_037459.2 | |||
XM_005261596.1 | 135 | Intron | XP_005261653.1 | |||
XM_017028792.1 | 135 | Intron | XP_016884281.1 |
SAMM50 - SAMM50 sorting and assembly machinery component | ||||||
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There are no transcripts associated with this gene. |