Product Details

SNP ID

rs111415728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:83153945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTGTCCAGCTGCTCAGCAGTCT[C/T]AGTGGGTATCAGTACACACGGAGAG

Phenotype

MIM: 616823 MIM: 172100

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DOPEY1 PubMed Links

Gene Details

Gene

DOPEY1

Gene Name

dopey family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199942.1	6519	Silent Mutation	CTC,CTT	L2088L	NP_001186871.1
NM_015018.3	6519	Silent Mutation	CTC,CTT	L2097L	NP_055833.2
XM_011535619.2	6519	Silent Mutation	CTC,CTT	L2087L	XP_011533921.1
XM_017010559.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866048.1
XM_017010560.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866049.1
XM_017010561.1	6519	Silent Mutation	CTC,CTT	L2088L	XP_016866050.1
XM_017010562.1	6519	Silent Mutation	CTC,CTT	L2088L	XP_016866051.1
XM_017010563.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866052.1
XM_017010564.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866053.1
XM_017010565.1	6519	Silent Mutation	CTC,CTT	L2088L	XP_016866054.1
XM_017010566.1	6519	Silent Mutation	CTC,CTT	L2088L	XP_016866055.1
XM_017010567.1	6519	Silent Mutation	CTC,CTT	L2088L	XP_016866056.1
XM_017010568.1	6519	Silent Mutation	CTC,CTT	L2087L	XP_016866057.1
XM_017010569.1	6519	Silent Mutation	CTC,CTT	L2087L	XP_016866058.1
XM_017010570.1	6519	Silent Mutation	CTC,CTT	L2064L	XP_016866059.1
XM_017010571.1	6519	Silent Mutation	CTC,CTT	L2062L	XP_016866060.1
XM_017010572.1	6519	Intron			XP_016866061.1
XM_017010573.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866062.1
XM_017010574.1	6519	Silent Mutation	CTC,CTT	L2097L	XP_016866063.1

Gene

PGM3

Gene Name

phosphoglucomutase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199917.1	6519	Intron			NP_001186846.1
NM_001199918.1	6519	Intron			NP_001186847.1
NM_001199919.1	6519	Intron			NP_001186848.1
NM_015599.2	6519	Intron			NP_056414.1
XM_017010935.1	6519	Intron			XP_016866424.1
XM_017010936.1	6519	Intron			XP_016866425.1
XM_017010937.1	6519	Intron			XP_016866426.1
XM_017010938.1	6519	Intron			XP_016866427.1

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