Product Details

SNP ID
rs199918080
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76531615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTGCTTCCGCAGCTGGGGGCTCC[A/G]CTCCATCTCCAGGGGATCCTCCATG
Phenotype
MIM: 608759 MIM: 610598
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CYGB PubMed Links

Gene Details

Gene
CYGB
Gene Name
cytoglobin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_134268.4 230 Missense Mutation CGG,TGG R74W NP_599030.1
XM_005257005.2 230 Missense Mutation CGG,TGG R74W XP_005257062.1
XM_017024116.1 230 Missense Mutation CGG,TGG R9W XP_016879605.1
Gene
PRCD
Gene Name
progressive rod-cone degeneration
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077620.2 230 Intron NP_001071088.1
XM_017025013.1 230 Intron XP_016880502.1
XM_017025014.1 230 Intron XP_016880503.1
XM_017025015.1 230 Intron XP_016880504.1

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