Product Details

SNP ID
rs200157946
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:47937290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTCTGCTCTGGCTGCATTCATGT[G/T]GGAAATCATAGAACCTATGTTACCA
Phenotype
MIM: 123825
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CNGA1 PubMed Links

Gene Details

Gene
CNGA1
Gene Name
cyclic nucleotide gated channel alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000087.3 1525 Missense Mutation AAC,CAC N402H NP_000078.2
NM_001142564.1 1525 Missense Mutation AAC,CAC N471H NP_001136036.1
XM_005248049.4 1525 Missense Mutation AAC,CAC N477H XP_005248106.2
XM_011513623.2 1525 Missense Mutation AAC,CAC N402H XP_011511925.1
XM_017007712.1 1525 Missense Mutation AAC,CAC N402H XP_016863201.1
Gene
LOC101927157
Gene Name
uncharacterized LOC101927157
There are no transcripts associated with this gene.

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