Product Details

SNP ID

rs201088735

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:212796521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTCTTTTTTTTTTTTTCAGGCCA[A/G]TGTTGTGGCCCTTGTGGCAGTTGCC

Phenotype

MIM: 609174

Polymorphism

A/G, Transition 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	193	Intron			NP_001036014.1
NM_001297736.1	193	Intron			NP_001284665.1
NM_001297737.1	193	Intron			NP_001284666.1
NM_001297739.1	193	Intron			NP_001284668.1
NM_015471.3	193	Intron			NP_056286.3
XM_017000968.1	193	Intron			XP_016856457.1
XM_017000969.1	193	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	193	Missense Mutation	AAT,AGT	N35S	NP_001036017.1
NM_001042553.2	193	Missense Mutation	AAT,AGT	N35S	NP_001036018.1
NM_001146169.1	193	Missense Mutation	AAT,AGT	N35S	NP_001139641.1
NM_001146170.1	193	Missense Mutation	AAT,AGT	N35S	NP_001139642.1
NM_001146171.1	193	Missense Mutation	AAT,AGT	N35S	NP_001139643.1
XM_011509202.2	193	Missense Mutation	AAT,AGT	N35S	XP_011507504.1
XM_017000328.1	193	Missense Mutation	AAT,AGT	N35S	XP_016855817.1
XM_017000329.1	193	Missense Mutation	AAT,AGT	N35S	XP_016855818.1
XM_017000330.1	193	Missense Mutation	AAT,AGT	N35S	XP_016855819.1
XM_017000331.1	193	Missense Mutation	AAT,AGT	N35S	XP_016855820.1

View Full Product Details