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SNP ID

rs150553508

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:104938833 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCCCTCCTGAGTCCTAGAGTGTT[A/G]AGTCATTGTTGTGTACACTCTAGCC

Phenotype

MIM: 608570

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AHNAK2 PubMed Links

Gene Details

Gene

AHNAK2

Gene Name

AHNAK nucleoprotein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138420.2	16738	Nonsense Mutation	CAA,TAA	Q5540*	NP_612429.2
XM_005267299.1	16738	Nonsense Mutation	CAA,TAA	Q5440*	XP_005267356.1

Gene

PLD4

Gene Name

phospholipase D family member 4

There are no transcripts associated with this gene.

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