Product Details

SNP ID
rs11552299
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:154963893 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTGTCCATGTGGTAGCTGATAAG[A/G]TGACTGACACTTTCAAAGCGGTGAT
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 3076 Intron NP_001123512.1
NM_001130041.1 3076 Intron NP_001123513.1
NM_001202859.1 3076 Intron NP_001189788.1
NM_003029.4 3076 Intron NP_003020.2
NM_183001.4 3076 Intron NP_892113.4
XM_005245449.4 3076 Intron XP_005245506.1
XM_005245451.4 3076 Intron XP_005245508.1
XM_011509892.2 3076 Silent Mutation CAC,CAT H564H XP_011508194.1
XM_011509893.2 3076 Silent Mutation CAC,CAT H563H XP_011508195.1
XM_011509894.2 3076 Silent Mutation CAC,CAT H546H XP_011508196.1
XM_011509897.1 3076 Intron XP_011508199.1
XM_011509898.2 3076 Intron XP_011508200.1
XM_017002081.1 3076 Silent Mutation CAC,CAT H537H XP_016857570.1
XM_017002082.1 3076 Silent Mutation CAC,CAT H536H XP_016857571.1
XM_017002083.1 3076 Intron XP_016857572.1

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