Product Details

SNP ID

rs200380618

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:164563249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTTTCTTGCAGAAAACATGCTT[T/A]AAACTGCCACAGAATGAAGCCTGCC

Phenotype

MIM: 176310

Polymorphism

T/A, 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	666	Nonsense Mutation	TAA,TTA	*68L	NP_001191890.1
NM_001204963.1	666	Nonsense Mutation	TAA,TTA	*68L	NP_001191892.1
NM_002585.3	666	Nonsense Mutation	TAA,TTA	*68L	NP_002576.1
XM_005245228.3	666	Nonsense Mutation	TAA,TTA	*68L	XP_005245285.1
XM_005245229.3	666	Nonsense Mutation	TAA,TTA	*68L	XP_005245286.1
XM_011509590.1	666	Nonsense Mutation	TAA,TTA	*68L	XP_011507892.1
XM_011509591.2	666	Nonsense Mutation	TAA,TTA	*68L	XP_011507893.1
XM_011509592.1	666	Nonsense Mutation	TAA,TTA	*68L	XP_011507894.1
XM_017001395.1	666	Nonsense Mutation	TAA,TTA	*68L	XP_016856884.1
XM_017001396.1	666	Nonsense Mutation	TAA,TTA	*68L	XP_016856885.1

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