Product Details

SNP ID

rs144123272

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:154958912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGTCAGCAGCCCATAGGCGCTC[G/T]CAGTCATGCCTGTGCACTCACGGTG

Phenotype

MIM: 606903 MIM: 600560

Polymorphism

G/T, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138300.3	1294	Missense Mutation	GAG,GCG	E363A	NP_612157.1

Gene

SHC1

Gene Name

SHC adaptor protein 1

There are no transcripts associated with this gene.

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