Product Details

SNP ID

rs73351760

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:67826204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAGGAGACCCAGGATTCTGAGGA[C/G]GACGAGGAGGATGAGATGGAAGAGG

Phenotype

MIM: 601819

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BPTF PubMed Links

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	688	Missense Mutation	GAC,GAG	D160E	NP_004450.3
NM_182641.3	688	Missense Mutation	GAC,GAG	D160E	NP_872579.2
XM_005257150.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257207.1
XM_005257151.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257208.1
XM_005257152.2	688	Missense Mutation	GAC,GAG	D160E	XP_005257209.1
XM_005257153.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257210.1
XM_005257154.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257211.1
XM_005257155.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257212.1
XM_005257156.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257213.1
XM_005257157.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257214.1
XM_005257158.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257215.1
XM_005257159.2	688	Missense Mutation	GAC,GAG	D160E	XP_005257216.1
XM_005257160.2	688	Missense Mutation	GAC,GAG	D160E	XP_005257217.1
XM_005257161.3	688	Missense Mutation	GAC,GAG	D160E	XP_005257218.1
XM_011524520.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522822.1
XM_011524521.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522823.1
XM_011524522.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522824.1
XM_011524523.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522825.1
XM_011524524.2	688	Intron			XP_011522826.1
XM_011524525.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522827.1
XM_011524526.2	688	Missense Mutation	GAC,GAG	D160E	XP_011522828.1
XM_017024353.1	688	Missense Mutation	GAC,GAG	D160E	XP_016879842.1
XM_017024354.1	688	Intron			XP_016879843.1

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