Product Details

SNP ID

rs138111256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:9751093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCACACCAGACGAGCTGGAGGCC[G/T]TGCGCAAGTACTTCCAGCTAGATGT

Phenotype

MIM: 602410 MIM: 604998 MIM: 601982

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BRPF1 PubMed Links

Gene Details

Gene

BRPF1

Gene Name

bromodomain and PHD finger containing 1

There are no transcripts associated with this gene.

Gene

CAMK1

Gene Name

calcium/calmodulin dependent protein kinase I

There are no transcripts associated with this gene.

Gene

OGG1

Gene Name

8-oxoguanine DNA glycosylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002542.5	624	Missense Mutation	GTG,TTG	V96L	NP_002533.1
NM_016819.3	624	Missense Mutation	GTG,TTG	V96L	NP_058212.1
NM_016820.3	624	Missense Mutation	GTG,TTG	V96L	NP_058213.1
NM_016821.2	624	Missense Mutation	GTG,TTG	V96L	NP_058214.1
NM_016826.2	624	Missense Mutation	GTG,TTG	V96L	NP_058434.1
NM_016827.2	624	Missense Mutation	GTG,TTG	V96L	NP_058436.1
NM_016828.2	624	Missense Mutation	GTG,TTG	V96L	NP_058437.1
NM_016829.2	624	Missense Mutation	GTG,TTG	V96L	NP_058438.1
XM_011533760.1	624	Missense Mutation	GTG,TTG	V96L	XP_011532062.1
XM_017006493.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861982.1
XM_017006494.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861983.1
XM_017006495.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861984.1
XM_017006496.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861985.1
XM_017006497.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861986.1
XM_017006498.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861987.1
XM_017006499.1	624	Missense Mutation	GTG,TTG	V96L	XP_016861988.1

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