Product Details

SNP ID
rs139406761
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76531671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACTGGCTGAAGTACTGCTTGGCC[A/G]AGGGGAAGTTCACAAAGAACCTGGC
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_134268.4 174 Missense Mutation TCG,TTG S55L NP_599030.1
XM_005257005.2 174 Missense Mutation TCG,TTG S55L XP_005257062.1
XM_017024116.1 174 UTR 5 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_001077620.2 174 Intron NP_001071088.1
XM_017025013.1 174 Intron XP_016880502.1
XM_017025014.1 174 Intron XP_016880503.1
XM_017025015.1 174 Intron XP_016880504.1

View Full Product Details