Product Details

SNP ID

rs146856249

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:212791950 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGCGGCTGGCGTAGGCTTGGTGG[A/C]CTGTCACTGCCACCTCTCCGCCCCG

Phenotype

MIM: 609174

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NSL1 PubMed Links

Gene Details

Gene

NSL1

Gene Name

NSL1, MIS12 kinetochore complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042549.1	118	Intron			NP_001036014.1
NM_001297736.1	118	Intron			NP_001284665.1
NM_001297737.1	118	Intron			NP_001284666.1
NM_001297739.1	118	Intron			NP_001284668.1
NM_015471.3	118	Intron			NP_056286.3
XM_017000968.1	118	Intron			XP_016856457.1
XM_017000969.1	118	Intron			XP_016856458.1

Gene

TATDN3

Gene Name

TatD DNase domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042552.2	118	Missense Mutation	GAC,GCC	D10A	NP_001036017.1
NM_001042553.2	118	Missense Mutation	GAC,GCC	D10A	NP_001036018.1
NM_001146169.1	118	Missense Mutation	GAC,GCC	D10A	NP_001139641.1
NM_001146170.1	118	Missense Mutation	GAC,GCC	D10A	NP_001139642.1
NM_001146171.1	118	Missense Mutation	GAC,GCC	D10A	NP_001139643.1
XM_011509202.2	118	Missense Mutation	GAC,GCC	D10A	XP_011507504.1
XM_017000328.1	118	Missense Mutation	GAC,GCC	D10A	XP_016855817.1
XM_017000329.1	118	Missense Mutation	GAC,GCC	D10A	XP_016855818.1
XM_017000330.1	118	Missense Mutation	GAC,GCC	D10A	XP_016855819.1
XM_017000331.1	118	Missense Mutation	GAC,GCC	D10A	XP_016855820.1

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