Product Details

SNP ID

rs138207690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154402704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGGCCCTGGGGGGGTAGGGGGA[C/T]GCTCAGGCAGCAGGGCACAGCTGAG

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	1543	UTR 3			NP_001009932.1
NM_001009933.2	1543	UTR 3			NP_001009933.1
NM_001009934.2	1543	UTR 3			NP_001009934.1
NM_001303620.1	1543	UTR 3			NP_001290549.1
NM_006730.3	1543	UTR 3			NP_006721.1
XM_005277829.4	1543	UTR 3			XP_005277886.1
XM_011531122.2	1543	UTR 3			XP_011529424.1
XM_017029332.1	1543	UTR 3			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	1543	Intron			NP_001243506.2
NM_001256580.2	1543	Intron			NP_001243509.2
NM_001303624.1	1543	Intron			NP_001290553.1
NM_001303625.1	1543	Intron			NP_001290554.1
NM_001303626.1	1543	Intron			NP_001290555.1
NM_006013.4	1543	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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