Product Details

SNP ID
rs142969820
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:66754768 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTGGCGAAAGGAAATTCATGGGC[A/G]CATCAAAGAGTGAGTAACTGTCTAA
Phenotype
MIM: 611540
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
SGIP1 PubMed Links

Gene Details

Gene
SGIP1
Gene Name
SH3 domain GRB2 like endophilin interacting protein 1
There are no transcripts associated with this gene.

Gene
TCTEX1D1
Gene Name
Tctex1 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152665.2 241 Missense Mutation CAC,CGC H37R NP_689878.2
XM_011540933.2 241 UTR 5 XP_011539235.1
XM_017000566.1 241 Missense Mutation CAC,CGC H37R XP_016856055.1

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