Product Details

SNP ID

rs147207744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19202485 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTAGTACCTTCCAGGCAGCCCC[A/G]GCGACTGGAGAAGCCACCCTGAAAC

Phenotype

MIM: 616601 MIM: 600826 MIM: 608719 MIM: 603200

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BORCS8 PubMed Links

Gene Details

Gene

BORCS8

Gene Name

BLOC-1 related complex subunit 8

There are no transcripts associated with this gene.

Gene

BORCS8-MEF2B

Gene Name

BORCS8-MEF2B readthrough

There are no transcripts associated with this gene.

Gene

NCAN

Gene Name

neurocan

There are no transcripts associated with this gene.

Gene

NR2C2AP

Gene Name

nuclear receptor 2C2 associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300945.1	613	Missense Mutation	CGG,TGG	R74W	NP_001287874.1
NM_176880.5	613	Missense Mutation	CGG,TGG	R74W	NP_795361.1
XM_011527688.2	613	Missense Mutation	CGG,TGG	R74W	XP_011525990.1

Gene

RFXANK

Gene Name

regulatory factor X associated ankyrin containing protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278727.1	613	Intron			NP_001265656.1
NM_001278728.1	613	Intron			NP_001265657.1
NM_003721.3	613	Intron			NP_003712.1
NM_134440.2	613	Intron			NP_604389.1
XM_005260134.4	613	Intron			XP_005260191.1
XM_005260135.3	613	Intron			XP_005260192.1
XM_005260136.4	613	Intron			XP_005260193.1
XM_005260137.4	613	Intron			XP_005260194.1
XM_006722930.3	613	Intron			XP_006722993.1
XM_017027415.1	613	Intron			XP_016882904.1
XM_017027416.1	613	Intron			XP_016882905.1

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