Product Details

SNP ID

rs143770213

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:67826179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGGAGGAGGAGGACGGCGACG[C/G]CGAGGAGACCCAGGATTCTGAGGAC

Phenotype

MIM: 601819

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

BPTF PubMed Links

Additional Information

For this assay, SNP(s) [rs73351760] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

BPTF

Gene Name

bromodomain PHD finger transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004459.6	663	Missense Mutation	GCC,GGC	A152G	NP_004450.3
NM_182641.3	663	Missense Mutation	GCC,GGC	A152G	NP_872579.2
XM_005257150.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257207.1
XM_005257151.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257208.1
XM_005257152.2	663	Missense Mutation	GCC,GGC	A152G	XP_005257209.1
XM_005257153.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257210.1
XM_005257154.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257211.1
XM_005257155.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257212.1
XM_005257156.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257213.1
XM_005257157.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257214.1
XM_005257158.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257215.1
XM_005257159.2	663	Missense Mutation	GCC,GGC	A152G	XP_005257216.1
XM_005257160.2	663	Missense Mutation	GCC,GGC	A152G	XP_005257217.1
XM_005257161.3	663	Missense Mutation	GCC,GGC	A152G	XP_005257218.1
XM_011524520.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522822.1
XM_011524521.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522823.1
XM_011524522.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522824.1
XM_011524523.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522825.1
XM_011524524.2	663	Intron			XP_011522826.1
XM_011524525.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522827.1
XM_011524526.2	663	Missense Mutation	GCC,GGC	A152G	XP_011522828.1
XM_017024353.1	663	Missense Mutation	GCC,GGC	A152G	XP_016879842.1
XM_017024354.1	663	Intron			XP_016879843.1

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