Product Details

SNP ID

rs34952165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154403570 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCACAAATGGCTCCCGGGCAAAGA[C/T]GTCATCCTCATCGTTGTACACGTAG

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	995	Missense Mutation	ATC,GTC	I122V	NP_001009932.1
NM_001009933.2	995	Missense Mutation	ATC,GTC	I122V	NP_001009933.1
NM_001009934.2	995	Missense Mutation	ATC,GTC	I122V	NP_001009934.1
NM_001303620.1	995	Missense Mutation	ATC,GTC	I122V	NP_001290549.1
NM_006730.3	995	Missense Mutation	ATC,GTC	I122V	NP_006721.1
XM_005277829.4	995	Missense Mutation	ATC,GTC	I122V	XP_005277886.1
XM_011531122.2	995	Missense Mutation	ATC,GTC	I122V	XP_011529424.1
XM_017029332.1	995	Missense Mutation	ATC,GTC	I122V	XP_016884821.1

Gene

LOC107987332

Gene Name

uncharacterized LOC107987332

There are no transcripts associated with this gene.

Gene

RPL10

Gene Name

ribosomal protein L10

There are no transcripts associated with this gene.

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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