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CTCCTCATGCTGCTGCAGCAGCTGA[C/T]AGCGGTGGCGGAGGAGCTCCTCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612939 MIM: 610875 | ||||||||||||||||||||
Literature Links: |
HSPBP1 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 |
HSPBP1 - HSPA (Hsp70) binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130106.1 | 1417 | Missense Mutation | TAT,TGT | Y,C 325 | NP_001123578.1 | |
NM_001297600.1 | 1417 | Missense Mutation | TAT,TGT | Y,C 371 | NP_001284529.1 | |
NM_012267.4 | 1417 | Missense Mutation | TAT,TGT | Y,C 325 | NP_036399.3 | |
XM_005258700.2 | 1417 | Missense Mutation | ATC,GTC | I,V 318 | XP_005258757.1 | |
XM_005258701.2 | 1417 | Missense Mutation | ATC,GTC | I,V 318 | XP_005258758.1 | |
XM_011526691.1 | 1417 | Missense Mutation | ATC,GTC | I,V 318 | XP_011524993.1 | |
XM_017026543.1 | 1417 | Missense Mutation | ATC,GTC | I,V 318 | XP_016882032.1 | |
XM_017026544.1 | 1417 | Missense Mutation | TAT,TGT | Y,C 325 | XP_016882033.1 | |
XM_017026545.1 | 1417 | Silent Mutation | CTA,CTG | L,L 321 | XP_016882034.1 |
PPP6R1 - protein phosphatase 6 regulatory subunit 1 | ||||||
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There are no transcripts associated with this gene. |