Product Details

SNP ID

rs104894942

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154413248 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACATCTGGAACCTGAAGTTGATG[A/C]GTTGGTGAGGAGGAATGGGCCCCTC

Phenotype

MIM: 300081 MIM: 300394

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNASE1L1 PubMed Links

Gene Details

Gene

DNASE1L1

Gene Name

deoxyribonuclease I-like 1

There are no transcripts associated with this gene.

Gene

TAZ

Gene Name

tafazzin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000116.4	17	Missense Mutation	AGT,CGT	S94R	NP_000107.1
NM_001303465.1	17	Missense Mutation	AGT,CGT	S112R	NP_001290394.1
NM_181311.3	17	Missense Mutation	AGT,CGT	S94R	NP_851828.1
NM_181312.3	17	Missense Mutation	AGT,CGT	S94R	NP_851829.1
NM_181313.3	17	Missense Mutation	AGT,CGT	S94R	NP_851830.1
XM_006724836.1	17	Missense Mutation	AGT,CGT	S112R	XP_006724899.1
XM_006724837.1	17	Missense Mutation	AGT,CGT	S112R	XP_006724900.1
XM_006724839.1	17	Missense Mutation	AGT,CGT	S112R	XP_006724902.1
XM_006724841.3	17	UTR 5			XP_006724904.1
XM_006724842.3	17	UTR 5			XP_006724905.1
XM_011531189.1	17	Missense Mutation	AGT,CGT	S112R	XP_011529491.1
XM_011531191.2	17	Missense Mutation	AGT,CGT	S2R	XP_011529493.1
XM_017029761.1	17	Missense Mutation	AGT,CGT	S94R	XP_016885250.1
XM_017029762.1	17	Missense Mutation	AGT,CGT	S112R	XP_016885251.1
XM_017029763.1	17	Missense Mutation	AGT,CGT	S94R	XP_016885252.1
XM_017029764.1	17	UTR 5			XP_016885253.1
XM_017029765.1	17	UTR 5			XP_016885254.1

View Full Product Details