Product Details

SNP ID

rs182064855

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:47492101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTGTACTTGAGGAGGGGGCTGT[C/T]CATGGCATTGGTCCCCACCTGTAGC

Phenotype

MIM: 615620 MIM: 603215

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KPTN PubMed Links

Gene Details

Gene

KPTN

Gene Name

kaptin, actin binding protein

There are no transcripts associated with this gene.

Gene

NAPA

Gene Name

NSF attachment protein alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003827.3	572	Missense Mutation	AAC,GAC	N194D	NP_003818.2
XM_011527436.1	572	Missense Mutation	AAC,GAC	N144D	XP_011525738.1
XM_011527437.1	572	Missense Mutation	AAC,GAC	N90D	XP_011525739.1

Gene

NAPA-AS1

Gene Name

NAPA antisense RNA 1

There are no transcripts associated with this gene.

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