Product Details

SNP ID

rs143111256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23364663 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACTTTGCTTCATTTCTTGAGTTT[A/G]TCTACACTGCAAAGGTACAGGTGGA

Phenotype

MIM: 613842 MIM: 611270 MIM: 605811

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GZF1 PubMed Links

Gene Details

Gene

GZF1

Gene Name

GDNF inducible zinc finger protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317012.1	379	Missense Mutation	ATC,GTC	I94V	NP_001303941.1
NM_001317019.1	379	Missense Mutation	ATC,GTC	I94V	NP_001303948.1
NM_022482.4	379	Missense Mutation	ATC,GTC	I94V	NP_071927.1
XM_005260800.2	379	Missense Mutation	ATC,GTC	I94V	XP_005260857.1
XM_005260802.3	379	Missense Mutation	ATC,GTC	I94V	XP_005260859.1
XM_011529321.2	379	Missense Mutation	ATC,GTC	I94V	XP_011527623.1
XM_011529322.1	379	Missense Mutation	ATC,GTC	I94V	XP_011527624.1
XM_017028017.1	379	Missense Mutation	ATC,GTC	I94V	XP_016883506.1
XM_017028018.1	379	Missense Mutation	ATC,GTC	I94V	XP_016883507.1
XM_017028019.1	379	Missense Mutation	ATC,GTC	I94V	XP_016883508.1

Gene

LINC01431

Gene Name

long intergenic non-protein coding RNA 1431

There are no transcripts associated with this gene.

Gene

NAPB

Gene Name

NSF attachment protein beta

There are no transcripts associated with this gene.

Gene

NXT1

Gene Name

nuclear transport factor 2 like export factor 1

There are no transcripts associated with this gene.

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