Product Details

SNP ID

rs12877

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:154401914 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCAGCCAGTGTTTTTCCTGACCTCT[C/G]TTCTTTGGAGAGGAGGATGGAAGGG

Phenotype

MIM: 300081 MIM: 312173 MIM: 300394

Polymorphism

C/G, 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	2333	UTR 3			NP_001009932.1
NM_001009933.2	2333	UTR 3			NP_001009933.1
NM_001009934.2	2333	UTR 3			NP_001009934.1
NM_001303620.1	2333	UTR 3			NP_001290549.1
NM_006730.3	2333	UTR 3			NP_006721.1
XM_005277829.4	2333	UTR 3			XP_005277886.1
XM_011531122.2	2333	UTR 3			XP_011529424.1
XM_017029332.1	2333	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	2333	UTR 3			NP_001243506.2
NM_001256580.2	2333	UTR 3			NP_001243509.2
NM_001303624.1	2333	UTR 3			NP_001290553.1
NM_001303625.1	2333	UTR 3			NP_001290554.1
NM_001303626.1	2333	UTR 3			NP_001290555.1
NM_006013.4	2333	UTR 3			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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