Product Details

SNP ID

rs200996611

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:31401525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAACTCTTGTCTGTACTTCCGTTC[A/G]ATGAACCGCTTCTGATGGGCCATCT

Phenotype

MIM: 608828

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DROSHA PubMed Links

Gene Details

Gene

DROSHA

Gene Name

drosha ribonuclease III

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100412.1	4443	Silent Mutation	ATC,ATT	I1307I	NP_001093882.1
NM_013235.4	4443	Silent Mutation	ATC,ATT	I1344I	NP_037367.3
XM_005248291.3	4443	Silent Mutation	ATC,ATT	I1344I	XP_005248348.1
XM_005248292.3	4443	Silent Mutation	ATC,ATT	I1336I	XP_005248349.1
XM_005248293.3	4443	Silent Mutation	ATC,ATT	I1313I	XP_005248350.1
XM_005248294.3	4443	Silent Mutation	ATC,ATT	I1276I	XP_005248351.1
XM_011514033.2	4443	Intron			XP_011512335.1
XM_017009399.1	4443	Silent Mutation	ATC,ATT	I1305I	XP_016864888.1
XM_017009400.1	4443	Silent Mutation	ATC,ATT	I1299I	XP_016864889.1
XM_017009401.1	4443	Silent Mutation	ATC,ATT	I1268I	XP_016864890.1
XM_017009402.1	4443	Silent Mutation	ATC,ATT	I776I	XP_016864891.1

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