Product Details

SNP ID
rs11552298
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:154963848 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGCTGTAGACACAGTTCGCTGCC[C/T]GCAGAGATGATGGGCAAGTGATTGT
Phenotype
MIM: 606903 MIM: 600560
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC101928120 PubMed Links

Gene Details

Gene
LOC101928120
Gene Name
uncharacterized LOC101928120
There are no transcripts associated with this gene.

Gene
PBXIP1
Gene Name
PBX homeobox interacting protein 1
There are no transcripts associated with this gene.

Gene
PYGO2
Gene Name
pygopus family PHD finger 2
There are no transcripts associated with this gene.

Gene
SHC1
Gene Name
SHC adaptor protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130040.1 3121 Intron NP_001123512.1
NM_001130041.1 3121 Intron NP_001123513.1
NM_001202859.1 3121 Intron NP_001189788.1
NM_003029.4 3121 Intron NP_003020.2
NM_183001.4 3121 Intron NP_892113.4
XM_005245449.4 3121 Intron XP_005245506.1
XM_005245451.4 3121 Intron XP_005245508.1
XM_011509892.2 3121 Silent Mutation GCA,GCG A579A XP_011508194.1
XM_011509893.2 3121 Silent Mutation GCA,GCG A578A XP_011508195.1
XM_011509894.2 3121 Silent Mutation GCA,GCG A561A XP_011508196.1
XM_011509897.1 3121 Intron XP_011508199.1
XM_011509898.2 3121 Intron XP_011508200.1
XM_017002081.1 3121 Silent Mutation GCA,GCG A552A XP_016857570.1
XM_017002082.1 3121 Silent Mutation GCA,GCG A551A XP_016857571.1
XM_017002083.1 3121 Intron XP_016857572.1

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