Product Details

SNP ID

rs5987256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154403036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTCCCCGTGCAGCACGACGCGG[G/T]CATAGGTGCAGTGGGTGCTGGCCCG

Phenotype

MIM: 300081 MIM: 312173 MIM: 300394

Polymorphism

G/T, Transversion 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	1311	Missense Mutation	GAC,GCC	D227A	NP_001009932.1
NM_001009933.2	1311	Missense Mutation	GAC,GCC	D227A	NP_001009933.1
NM_001009934.2	1311	Missense Mutation	GAC,GCC	D227A	NP_001009934.1
NM_001303620.1	1311	Missense Mutation	GAC,GCC	D227A	NP_001290549.1
NM_006730.3	1311	Missense Mutation	GAC,GCC	D227A	NP_006721.1
XM_005277829.4	1311	Missense Mutation	GAC,GCC	D227A	XP_005277886.1
XM_011531122.2	1311	Missense Mutation	GAC,GCC	D227A	XP_011529424.1
XM_017029332.1	1311	Missense Mutation	GAC,GCC	D227A	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	1311	Intron			NP_001243506.2
NM_001256580.2	1311	Intron			NP_001243509.2
NM_001303624.1	1311	Intron			NP_001290553.1
NM_001303625.1	1311	Intron			NP_001290554.1
NM_001303626.1	1311	Intron			NP_001290555.1
NM_006013.4	1311	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.

View Full Product Details