Product Details

SNP ID
rs1904527
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:16990092 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGTATATCCATAGCATGGAATA[C/T]TACCCAGCAGTAAAAAGGAGTGAAG
Phenotype
MIM: 300317
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
REPS2 PubMed Links

Gene Details

Gene
REPS2
Gene Name
RALBP1 associated Eps domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080975.1 Intron NP_001074444.1
NM_004726.2 Intron NP_004717.2
XM_005274625.3 Intron XP_005274682.1
XM_005274626.3 Intron XP_005274683.1
XM_011545603.2 Intron XP_011543905.1
XM_011545604.2 Intron XP_011543906.1
XM_011545605.2 Intron XP_011543907.1
XM_011545606.2 Intron XP_011543908.1
XM_011545607.2 Intron XP_011543909.1
XM_011545609.2 Intron XP_011543911.1
XM_017029955.1 Intron XP_016885444.1
XM_017029956.1 Intron XP_016885445.1
XM_017029957.1 Intron XP_016885446.1
XM_017029958.1 Intron XP_016885447.1

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