Product Details

SNP ID
rs75579846
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:224231239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCATTGCTTACCTTTTTTGATATA[A/G]ATGATCTTACTTTCTTGAAAGCTTC
Phenotype
MIM: 602426
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC101927164 PubMed Links

Gene Details

Gene
LOC101927164
Gene Name
uncharacterized LOC101927164
There are no transcripts associated with this gene.

Gene
NVL
Gene Name
nuclear VCP-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243146.1 2575 Missense Mutation TCT,TTT S649F NP_001230075.1
NM_001243147.1 2575 Missense Mutation TCT,TTT S747F NP_001230076.1
NM_002533.3 2575 Missense Mutation TCT,TTT S838F NP_002524.2
NM_206840.2 2575 Missense Mutation TCT,TTT S732F NP_996671.1
XM_011544196.1 2575 Missense Mutation TCT,TTT S865F XP_011542498.1
XM_011544198.1 2575 Missense Mutation TCT,TTT S759F XP_011542500.1
XM_011544199.1 2575 Missense Mutation TCT,TTT S747F XP_011542501.1
XM_011544200.1 2575 Missense Mutation TCT,TTT S747F XP_011542502.1
XM_017001378.1 2575 Missense Mutation TCT,TTT S899F XP_016856867.1
XM_017001379.1 2575 Missense Mutation TCT,TTT S872F XP_016856868.1
XM_017001380.1 2575 Intron XP_016856869.1
XM_017001381.1 2575 Missense Mutation TCT,TTT S821F XP_016856870.1
XM_017001382.1 2575 Missense Mutation TCT,TTT S821F XP_016856871.1
XM_017001383.1 2575 Missense Mutation TCT,TTT S794F XP_016856872.1
XM_017001384.1 2575 Intron XP_016856873.1
XM_017001385.1 2575 Intron XP_016856874.1
XM_017001386.1 2575 Missense Mutation TCT,TTT S720F XP_016856875.1

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