Product Details

SNP ID

rs200548806

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80104622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACCCGCCCTGCTCCCACCGGCT[C/T]CTGGCCGTCTGCGCCCTCGTGTCCT

Phenotype

MIM: 613799 MIM: 606800

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC40 PubMed Links

Gene Details

Gene

CCDC40

Gene Name

coiled-coil domain containing 40

There are no transcripts associated with this gene.

Gene

GAA

Gene Name

glucosidase alpha, acid

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000152.4	274	Silent Mutation	CTC,CTT	L12L	NP_000143.2
NM_001079803.2	274	Silent Mutation	CTC,CTT	L12L	NP_001073271.1
NM_001079804.2	274	Silent Mutation	CTC,CTT	L12L	NP_001073272.1
XM_005257193.2	274	Silent Mutation	CTC,CTT	L12L	XP_005257250.1
XM_005257194.4	274	Silent Mutation	CTC,CTT	L12L	XP_005257251.1

Gene

MIR1268B

Gene Name

microRNA 1268b

There are no transcripts associated with this gene.

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