Product Details

SNP ID

rs55709122

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:212796547 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTGTGGCCCTTGTGGCAGTTGCC[A/G]AACATTCAGGAGAATTTGAAAAGAT

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	219	Intron			NP_001036014.1
NM_001297736.1	219	Intron			NP_001284665.1
NM_001297737.1	219	Intron			NP_001284666.1
NM_001297739.1	219	Intron			NP_001284668.1
NM_015471.3	219	Intron			NP_056286.3
XM_017000968.1	219	Intron			XP_016856457.1
XM_017000969.1	219	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	219	Missense Mutation	AAA,GAA	K44E	NP_001036017.1
NM_001042553.2	219	Missense Mutation	AAA,GAA	K44E	NP_001036018.1
NM_001146169.1	219	Missense Mutation	AAA,GAA	K44E	NP_001139641.1
NM_001146170.1	219	Missense Mutation	AAA,GAA	K44E	NP_001139642.1
NM_001146171.1	219	Missense Mutation	AAA,GAA	K44E	NP_001139643.1
XM_011509202.2	219	Missense Mutation	AAA,GAA	K44E	XP_011507504.1
XM_017000328.1	219	Missense Mutation	AAA,GAA	K44E	XP_016855817.1
XM_017000329.1	219	Missense Mutation	AAA,GAA	K44E	XP_016855818.1
XM_017000330.1	219	Missense Mutation	AAA,GAA	K44E	XP_016855819.1
XM_017000331.1	219	Missense Mutation	AAA,GAA	K44E	XP_016855820.1

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