Product Details

SNP ID
rs185201841
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48981803 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCATGCGAGAGGCACCTTCAGCT[C/T]GGCAGCGTGCTGCTCCCGACACTGC
Phenotype
MIM: 300408 MIM: 300281
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GRIPAP1 PubMed Links

Gene Details

Gene
GRIPAP1
Gene Name
GRIP1 associated protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020137.4 1751 Missense Mutation AAG,GAG K557E NP_064522.3
XM_011543935.1 1751 Missense Mutation AAG,GAG K567E XP_011542237.1
XM_011543936.1 1751 Intron XP_011542238.1
XM_011543937.1 1751 Missense Mutation AAG,GAG K491E XP_011542239.1
XM_017029656.1 1751 Intron XP_016885145.1
XM_017029657.1 1751 Missense Mutation AAG,GAG K491E XP_016885146.1
XM_017029658.1 1751 Missense Mutation AAG,GAG K481E XP_016885147.1
XM_017029659.1 1751 Missense Mutation AAG,GAG K481E XP_016885148.1
XM_017029660.1 1751 Intron XP_016885149.1
XM_017029661.1 1751 Intron XP_016885150.1
Gene
KCND1
Gene Name
potassium voltage-gated channel subfamily D member 1
There are no transcripts associated with this gene.

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