Product Details

SNP ID

rs148894677

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:164560009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCAGAGTTTGGATGAGGCGCAG[G/T]CCAGGTGAGATGGAGGCTTTTCTTT

Phenotype

MIM: 176310

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PBX1 PubMed Links

Gene Details

Gene

PBX1

Gene Name

PBX homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204961.1	650	Missense Mutation	GCC,TCC	A63S	NP_001191890.1
NM_001204963.1	650	Missense Mutation	GCC,TCC	A63S	NP_001191892.1
NM_002585.3	650	Missense Mutation	GCC,TCC	A63S	NP_002576.1
XM_005245228.3	650	Missense Mutation	GCC,TCC	A63S	XP_005245285.1
XM_005245229.3	650	Missense Mutation	GCC,TCC	A63S	XP_005245286.1
XM_011509590.1	650	Missense Mutation	GCC,TCC	A63S	XP_011507892.1
XM_011509591.2	650	Missense Mutation	GCC,TCC	A63S	XP_011507893.1
XM_011509592.1	650	Missense Mutation	GCC,TCC	A63S	XP_011507894.1
XM_017001395.1	650	Missense Mutation	GCC,TCC	A63S	XP_016856884.1
XM_017001396.1	650	Missense Mutation	GCC,TCC	A63S	XP_016856885.1

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