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SNP ID
rs117082139
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:8853627 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTTACTGTCTGCCCAAAAGCCAG[C/T]TTCCAAAAGGTTTGCTTGCCTCTGT
Phenotype
MIM: 616885 MIM: 601785
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CARHSP1 PubMed Links

Gene Details

Gene
CARHSP1
Gene Name
calcium regulated heat stable protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042476.2 2010 UTR 3 NP_001035941.1
NM_001278260.1 2010 UTR 3 NP_001265189.1
NM_001278261.1 2010 UTR 3 NP_001265190.1
NM_001278262.1 2010 UTR 3 NP_001265191.1
NM_001278263.1 2010 UTR 3 NP_001265192.1
NM_001278264.1 2010 UTR 3 NP_001265193.1
NM_001278265.1 2010 UTR 3 NP_001265194.1
NM_001278266.1 2010 UTR 3 NP_001265195.1
NM_014316.3 2010 UTR 3 NP_055131.2
XM_005255228.4 2010 UTR 3 XP_005255285.3
XM_005255229.4 2010 UTR 3 XP_005255286.1
XM_011522444.2 2010 UTR 3 XP_011520746.1
Gene
PMM2
Gene Name
phosphomannomutase 2
There are no transcripts associated with this gene.

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