Product Details

SNP ID

rs139779974

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:34538154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTTGCCCCTCCCTGACCTTGGG[A/C]TCTGGAAGGTCAGAGCAGCAGAGCA

Phenotype

MIM: 606512 MIM: 608144

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PACSIN1 PubMed Links

Gene Details

Gene

PACSIN1

Gene Name

protein kinase C and casein kinase substrate in neurons 1

There are no transcripts associated with this gene.

Gene

SPDEF

Gene Name

SAM pointed domain containing ETS transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252294.1	2254	UTR 3			NP_001239223.1
NM_012391.2	2254	UTR 3			NP_036523.1
XM_005248988.4	2254	UTR 3			XP_005249045.2
XM_011514457.2	2254	Intron			XP_011512759.1

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