Product Details

SNP ID

rs146004451

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154402789 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAGAGGCTGGACGCTGTGCGCC[C/T]GGCTCAGCTTCAGCTCCACCTCCAC

Phenotype

MIM: 300081 MIM: 312173 MIM: 300394

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNASE1L1 PubMed Links

Gene Details

Gene

DNASE1L1

Gene Name

deoxyribonuclease I-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009932.2	1458	Missense Mutation	CAG,CGG	Q276R	NP_001009932.1
NM_001009933.2	1458	Missense Mutation	CAG,CGG	Q276R	NP_001009933.1
NM_001009934.2	1458	Missense Mutation	CAG,CGG	Q276R	NP_001009934.1
NM_001303620.1	1458	Missense Mutation	CAG,CGG	Q276R	NP_001290549.1
NM_006730.3	1458	Missense Mutation	CAG,CGG	Q276R	NP_006721.1
XM_005277829.4	1458	Missense Mutation	CAG,CGG	Q276R	XP_005277886.1
XM_011531122.2	1458	Missense Mutation	CAG,CGG	Q276R	XP_011529424.1
XM_017029332.1	1458	Missense Mutation	CAG,CGG	Q276R	XP_016884821.1

Gene

LOC107987332

Gene Name

uncharacterized LOC107987332

There are no transcripts associated with this gene.

Gene

RPL10

Gene Name

ribosomal protein L10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256577.2	1458	Intron			NP_001243506.2
NM_001256580.2	1458	Intron			NP_001243509.2
NM_001303624.1	1458	Intron			NP_001290553.1
NM_001303625.1	1458	Intron			NP_001290554.1
NM_001303626.1	1458	Intron			NP_001290555.1
NM_006013.4	1458	Intron			NP_006004.3

Gene

SNORA70

Gene Name

small nucleolar RNA, H/ACA box 70

There are no transcripts associated with this gene.

Gene

TAZ

Gene Name

tafazzin

There are no transcripts associated with this gene.

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