Product Details

SNP ID
rs4991330
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45815504 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAAAGCACCCGCAGGTCAAGCCC[A/C]GCCCCGTCCCCCAGCCCCGAGTCCC
Phenotype
MIM: 607548 MIM: 602388
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RSPH6A PubMed Links

Gene Details

Gene
RSPH6A
Gene Name
radial spoke head 6 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030785.3 4079 Intron NP_110412.1
XM_011527351.1 4079 Intron XP_011525653.1
Gene
SYMPK
Gene Name
symplekin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004819.2 4079 UTR 3 NP_004810.2
XM_005259286.1 4079 UTR 3 XP_005259343.1
XM_011527354.1 4079 UTR 3 XP_011525656.1

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