Product Details

SNP ID
rs200119834
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:154963841 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACAGGTTGCTGTAGACACAGTT[C/T]GCTGCCCGCAGAGATGATGGGCAAG
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 3128 Intron NP_001123512.1
NM_001130041.1 3128 Intron NP_001123513.1
NM_001202859.1 3128 Intron NP_001189788.1
NM_003029.4 3128 Intron NP_003020.2
NM_183001.4 3128 Intron NP_892113.4
XM_005245449.4 3128 Intron XP_005245506.1
XM_005245451.4 3128 Intron XP_005245508.1
XM_011509892.2 3128 Missense Mutation AAA,GAA K582E XP_011508194.1
XM_011509893.2 3128 Missense Mutation AAA,GAA K581E XP_011508195.1
XM_011509894.2 3128 Missense Mutation AAA,GAA K564E XP_011508196.1
XM_011509897.1 3128 Intron XP_011508199.1
XM_011509898.2 3128 Intron XP_011508200.1
XM_017002081.1 3128 Missense Mutation AAA,GAA K555E XP_016857570.1
XM_017002082.1 3128 Missense Mutation AAA,GAA K554E XP_016857571.1
XM_017002083.1 3128 Intron XP_016857572.1

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