Product Details

SNP ID

rs3810144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:45153419 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCAGCGCCAGCAGCCCCAGGCACA[C/G]GCGGCGCCGACAATGCCACTCGCTC

Phenotype

MIM: 610396

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NKPD1 PubMed Links

Gene Details

Gene

NKPD1

Gene Name

NTPase, KAP family P-loop domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198478.3	2996	Missense Mutation	CTG,GTG	L340V	NP_940880.3
XM_011526799.2	2996	Missense Mutation	CTG,GTG	L367V	XP_011525101.1
XM_011526802.2	2996	Missense Mutation	CTG,GTG	L340V	XP_011525104.1
XM_011526804.2	2996	Missense Mutation	CTG,GTG	L221V	XP_011525106.1
XM_011526805.2	2996	Missense Mutation	CTG,GTG	L165V	XP_011525107.1

Gene

PPP1R37

Gene Name

protein phosphatase 1 regulatory subunit 37

There are no transcripts associated with this gene.

Gene

TRAPPC6A

Gene Name

trafficking protein particle complex 6A

There are no transcripts associated with this gene.

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