Product Details

SNP ID

rs111642140

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:212795116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGGATTTGGATGATGTGTTGGAG[A/G]AAGCCAAGAAGGTAAGTCAATATTT

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	177	Intron			NP_001036014.1
NM_001297736.1	177	Intron			NP_001284665.1
NM_001297737.1	177	Intron			NP_001284666.1
NM_001297739.1	177	Intron			NP_001284668.1
NM_015471.3	177	Intron			NP_056286.3
XM_017000968.1	177	Intron			XP_016856457.1
XM_017000969.1	177	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	177	Missense Mutation	AAA,GAA	K30E	NP_001036017.1
NM_001042553.2	177	Missense Mutation	AAA,GAA	K30E	NP_001036018.1
NM_001146169.1	177	Missense Mutation	AAA,GAA	K30E	NP_001139641.1
NM_001146170.1	177	Missense Mutation	AAA,GAA	K30E	NP_001139642.1
NM_001146171.1	177	Missense Mutation	AAA,GAA	K30E	NP_001139643.1
XM_011509202.2	177	Missense Mutation	AAA,GAA	K30E	XP_011507504.1
XM_017000328.1	177	Missense Mutation	AAA,GAA	K30E	XP_016855817.1
XM_017000329.1	177	Missense Mutation	AAA,GAA	K30E	XP_016855818.1
XM_017000330.1	177	Missense Mutation	AAA,GAA	K30E	XP_016855819.1
XM_017000331.1	177	Missense Mutation	AAA,GAA	K30E	XP_016855820.1

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