Product Details

SNP ID

rs147574112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:75028587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTGGCCAAAAGGAACAAAGCGC[A/G]GTCTATCTAAGTGGAGGCAAAACAA

Phenotype

MIM: 605880

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DUPD1 PubMed Links

Gene Details

Gene

DUPD1

Gene Name

dual specificity phosphatase and pro isomerase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003892.1	3915	Intron			NP_001003892.1
XM_011539747.2	3915	Intron			XP_011538049.1
XM_017016176.1	3915	Intron			XP_016871665.1

Gene

KAT6B

Gene Name

lysine acetyltransferase 6B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256468.1	3915	Missense Mutation	AGT,GGT	S1072G	NP_001243397.1
NM_001256469.1	3915	Missense Mutation	AGT,GGT	S963G	NP_001243398.1
NM_012330.3	3915	Missense Mutation	AGT,GGT	S1255G	NP_036462.2
XM_005269664.2	3915	Missense Mutation	AGT,GGT	S1255G	XP_005269721.1
XM_017016000.1	3915	Missense Mutation	AGT,GGT	S1255G	XP_016871489.1
XM_017016001.1	3915	Missense Mutation	AGT,GGT	S1255G	XP_016871490.1
XM_017016002.1	3915	Missense Mutation	AGT,GGT	S1255G	XP_016871491.1
XM_017016003.1	3915	Missense Mutation	AGT,GGT	S1255G	XP_016871492.1
XM_017016004.1	3915	Missense Mutation	AGT,GGT	S1201G	XP_016871493.1
XM_017016005.1	3915	Missense Mutation	AGT,GGT	S1072G	XP_016871494.1
XM_017016006.1	3915	Missense Mutation	AGT,GGT	S963G	XP_016871495.1
XM_017016007.1	3915	Missense Mutation	AGT,GGT	S963G	XP_016871496.1
XM_017016008.1	3915	Missense Mutation	AGT,GGT	S963G	XP_016871497.1
XM_017016009.1	3915	Missense Mutation	AGT,GGT	S909G	XP_016871498.1

View Full Product Details