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SNP ID: rs2728
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:154962607 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTTTTTCTAGTCCTAGATGGAAAT[A/C]AATTTCATCTGCCTCAGGTCTCTGG
Phenotype: MIM: 606903 MIM: 600560
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: LOC101928120 PubMed Links

Gene Details

Gene: LOC101928120
Gene Name: uncharacterized LOC101928120

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321726.1	1137	UTR 3			NP_001308655.1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138300.3	1137	Intron			NP_612157.1

Gene: SHC1
Gene Name: SHC adaptor protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130040.1	1137	Intron			NP_001123512.1
NM_001130041.1	1137	Intron			NP_001123513.1
NM_001202859.1	1137	Intron			NP_001189788.1
NM_003029.4	1137	Intron			NP_003020.2
NM_183001.4	1137	Intron			NP_892113.4
XM_005245449.4	1137	Intron			XP_005245506.1
XM_005245451.4	1137	Intron			XP_005245508.1
XM_011509892.2	1137	UTR 3			XP_011508194.1
XM_011509893.2	1137	UTR 3			XP_011508195.1
XM_011509894.2	1137	UTR 3			XP_011508196.1
XM_011509897.1	1137	Intron			XP_011508199.1
XM_011509898.2	1137	Intron			XP_011508200.1
XM_017002081.1	1137	UTR 3			XP_016857570.1
XM_017002082.1	1137	UTR 3			XP_016857571.1
XM_017002083.1	1137	Intron			XP_016857572.1

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