Product Details

SNP ID

rs201891685

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:75028816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAACAGAAGGGAAGAAACATGTG[C/G]CCCTGTAAGTCCAAACACATCACCA

Phenotype

MIM: 605880

Polymorphism

C/G, Transversion 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	4144	Intron			NP_001003892.1
XM_011539747.2	4144	Intron			XP_011538049.1
XM_017016176.1	4144	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	4144	Missense Mutation	GCC,GGC	A1148G	NP_001243397.1
NM_001256469.1	4144	Missense Mutation	GCC,GGC	A1039G	NP_001243398.1
NM_012330.3	4144	Missense Mutation	GCC,GGC	A1331G	NP_036462.2
XM_005269664.2	4144	Missense Mutation	GCC,GGC	A1331G	XP_005269721.1
XM_017016000.1	4144	Missense Mutation	GCC,GGC	A1331G	XP_016871489.1
XM_017016001.1	4144	Missense Mutation	GCC,GGC	A1331G	XP_016871490.1
XM_017016002.1	4144	Missense Mutation	GCC,GGC	A1331G	XP_016871491.1
XM_017016003.1	4144	Missense Mutation	GCC,GGC	A1331G	XP_016871492.1
XM_017016004.1	4144	Missense Mutation	GCC,GGC	A1277G	XP_016871493.1
XM_017016005.1	4144	Missense Mutation	GCC,GGC	A1148G	XP_016871494.1
XM_017016006.1	4144	Missense Mutation	GCC,GGC	A1039G	XP_016871495.1
XM_017016007.1	4144	Missense Mutation	GCC,GGC	A1039G	XP_016871496.1
XM_017016008.1	4144	Missense Mutation	GCC,GGC	A1039G	XP_016871497.1
XM_017016009.1	4144	Missense Mutation	GCC,GGC	A985G	XP_016871498.1

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