Product Details

SNP ID

rs118203998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23603471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTTACCCTAACTTATGAATAGTG[G/C]TATACAAATATATTTCCATCTTTTT

Phenotype

MIM: 603836 MIM: 610355

Polymorphism

G/C, Transversion substitution

Allele Nomenclature

Literature Links

NDUFAB1 PubMed Links

Gene Details

Gene

NDUFAB1

Gene Name

NADH:ubiquinone oxidoreductase subunit AB1

There are no transcripts associated with this gene.

Gene

PALB2

Gene Name

partner and localizer of BRCA2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024675.3	4282	Nonsense Mutation	TAC,TAG	Y1183*	NP_078951.2
XM_011545946.2	4282	Nonsense Mutation	TAC,TAG	Y1185*	XP_011544248.1
XM_011545947.2	4282	UTR 3			XP_011544249.1
XM_011545948.2	4282	Nonsense Mutation	TAC,TAG	Y888*	XP_011544250.1
XM_017023671.1	4282	Nonsense Mutation	TAC,TAG	Y1106*	XP_016879160.1
XM_017023672.1	4282	Nonsense Mutation	TAC,TAG	Y1104*	XP_016879161.1
XM_017023673.1	4282	UTR 3			XP_016879162.1

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