Product Details

SNP ID
rs201315943
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:154963913 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAAGGTGACTGACACTTTCAAAGC[A/G]GTGATCCTTAGTCCGAACCTGGGAG
Phenotype
MIM: 606903 MIM: 600560
Polymorphism
A/G, 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 3056 Intron NP_001123512.1
NM_001130041.1 3056 Intron NP_001123513.1
NM_001202859.1 3056 Intron NP_001189788.1
NM_003029.4 3056 Intron NP_003020.2
NM_183001.4 3056 Intron NP_892113.4
XM_005245449.4 3056 Intron XP_005245506.1
XM_005245451.4 3056 Intron XP_005245508.1
XM_011509892.2 3056 Missense Mutation CGC,TGC R558C XP_011508194.1
XM_011509893.2 3056 Missense Mutation CGC,TGC R557C XP_011508195.1
XM_011509894.2 3056 Missense Mutation CGC,TGC R540C XP_011508196.1
XM_011509897.1 3056 Intron XP_011508199.1
XM_011509898.2 3056 Intron XP_011508200.1
XM_017002081.1 3056 Missense Mutation CGC,TGC R531C XP_016857570.1
XM_017002082.1 3056 Missense Mutation CGC,TGC R530C XP_016857571.1
XM_017002083.1 3056 Intron XP_016857572.1

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