Product Details

SNP ID
rs143281137
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:19024235 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTACCTTGAGCAAGGGCTCCTCGT[C/T]GCGCAGGAAGATCTGCCGCTTCTTG
Phenotype
MIM: 604330
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GRAP PubMed Links

Gene Details

Gene
GRAP
Gene Name
GRB2-related adaptor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006613.3 677 Missense Mutation AAC,GAC N150D NP_006604.1
XM_017024029.1 677 Missense Mutation AAC,GAC N150D XP_016879518.1
XM_017024030.1 677 Intron XP_016879519.1
Gene
SLC5A10
Gene Name
solute carrier family 5 member 10
There are no transcripts associated with this gene.

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