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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