Product Details

SNP ID
rs199829443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76530985 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCGCCCGCCTCCTCACGTGGTG[G/T]CGTTGGGGACCTGCTGCACCCAGCC
Phenotype
MIM: 608759 MIM: 610598
Polymorphism
G/T, Transversion 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_134268.4 543 Missense Mutation GAC,GCC D178A NP_599030.1
XM_005257005.2 543 Missense Mutation GAC,GCC D178A XP_005257062.1
XM_017024116.1 543 Missense Mutation GAC,GCC D113A 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_001077620.2 543 Intron NP_001071088.1
XM_017025013.1 543 Intron XP_016880502.1
XM_017025014.1 543 Intron XP_016880503.1
XM_017025015.1 543 Intron XP_016880504.1

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