Product Details

SNP ID

rs140573935

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:224233240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTCTGTCTTGCCATTTCCTGTC[C/T]CAGGGCACAGATAGAAGCTTCTCGT

Phenotype

MIM: 602426

Polymorphism

C/T, 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	2478	Missense Mutation	AGA,GGA	R617G	NP_001230075.1
NM_001243147.1	2478	Missense Mutation	AGA,GGA	R715G	NP_001230076.1
NM_002533.3	2478	Missense Mutation	AGA,GGA	R806G	NP_002524.2
NM_206840.2	2478	Missense Mutation	AGA,GGA	R700G	NP_996671.1
XM_011544196.1	2478	Missense Mutation	AGA,GGA	R833G	XP_011542498.1
XM_011544198.1	2478	Missense Mutation	AGA,GGA	R727G	XP_011542500.1
XM_011544199.1	2478	Missense Mutation	AGA,GGA	R715G	XP_011542501.1
XM_011544200.1	2478	Missense Mutation	AGA,GGA	R715G	XP_011542502.1
XM_017001378.1	2478	Missense Mutation	AGA,GGA	R867G	XP_016856867.1
XM_017001379.1	2478	Missense Mutation	AGA,GGA	R840G	XP_016856868.1
XM_017001380.1	2478	Missense Mutation	AGA,GGA	R867G	XP_016856869.1
XM_017001381.1	2478	Missense Mutation	AGA,GGA	R789G	XP_016856870.1
XM_017001382.1	2478	Missense Mutation	AGA,GGA	R789G	XP_016856871.1
XM_017001383.1	2478	Missense Mutation	AGA,GGA	R762G	XP_016856872.1
XM_017001384.1	2478	Intron			XP_016856873.1
XM_017001385.1	2478	Intron			XP_016856874.1
XM_017001386.1	2478	Missense Mutation	AGA,GGA	R688G	XP_016856875.1

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