Product Details

SNP ID

rs34282046

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19194090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGTCTCTTTCCCTGCACCCCTGA[C/G]CCTGTGAATCCTGAACCGGATGCCA

Phenotype

MIM: 616601 MIM: 608719 MIM: 603200

Polymorphism

C/G, Transversion 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

NR2C2AP

Gene Name

nuclear receptor 2C2 associated protein

There are no transcripts associated with this gene.

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	482	Missense Mutation	GAC,GAG	D48E	NP_001265656.1
NM_001278728.1	482	Missense Mutation	GAC,GAG	D48E	NP_001265657.1
NM_003721.3	482	Missense Mutation	GAC,GAG	D48E	NP_003712.1
NM_134440.2	482	Missense Mutation	GAC,GAG	D48E	NP_604389.1
XM_005260134.4	482	Missense Mutation	GAC,GAG	D48E	XP_005260191.1
XM_005260135.3	482	Missense Mutation	GAC,GAG	D48E	XP_005260192.1
XM_005260136.4	482	Missense Mutation	GAC,GAG	D48E	XP_005260193.1
XM_005260137.4	482	Missense Mutation	GAC,GAG	D48E	XP_005260194.1
XM_006722930.3	482	Missense Mutation	GAC,GAG	D48E	XP_006722993.1
XM_017027415.1	482	Missense Mutation	GAC,GAG	D48E	XP_016882904.1
XM_017027416.1	482	Missense Mutation	GAC,GAG	D48E	XP_016882905.1

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