Product Details

SNP ID

rs1010933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:76505502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACAAGACAGAGATGGACCGCAA[C/T]ATTACGGGCCACGGCTATCCCGACC

Phenotype

MIM: 613141

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DTX2 PubMed Links

Gene Details

Gene

DTX2

Gene Name

deltex E3 ubiquitin ligase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102594.1	2326	Silent Mutation	AAC,AAT	N590N	NP_001096064.1
NM_001102595.1	2326	Silent Mutation	AAC,AAT	N590N	NP_001096065.1
NM_001102596.1	2326	Silent Mutation	AAC,AAT	N543N	NP_001096066.1
NM_020892.2	2326	Silent Mutation	AAC,AAT	N590N	NP_065943.2
XM_005250131.1	2326	Silent Mutation	AAC,AAT	N590N	XP_005250188.1
XM_005250132.1	2326	Silent Mutation	AAC,AAT	N590N	XP_005250189.1
XM_011515772.1	2326	Silent Mutation	AAC,AAT	N590N	XP_011514074.1
XM_011515773.2	2326	Silent Mutation	AAC,AAT	N590N	XP_011514075.1
XM_011515774.1	2326	Silent Mutation	AAC,AAT	N590N	XP_011514076.1
XM_011515775.1	2326	Silent Mutation	AAC,AAT	N590N	XP_011514077.1
XM_017011723.1	2326	Silent Mutation	AAC,AAT	N590N	XP_016867212.1
XM_017011724.1	2326	Silent Mutation	AAC,AAT	N590N	XP_016867213.1
XM_017011725.1	2326	Silent Mutation	AAC,AAT	N590N	XP_016867214.1
XM_017011726.1	2326	Silent Mutation	AAC,AAT	N543N	XP_016867215.1
XM_017011727.1	2326	Silent Mutation	AAC,AAT	N543N	XP_016867216.1
XM_017011728.1	2326	Silent Mutation	AAC,AAT	N536N	XP_016867217.1
XM_017011729.1	2326	Intron			XP_016867218.1
XM_017011730.1	2326	Intron			XP_016867219.1

Gene

LOC105375355

Gene Name

uroplakin-3b

There are no transcripts associated with this gene.

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