Product Details

SNP ID

rs199666710

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:87696600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGGCTCAGCGCCTATCCTGGT[A/G]GTCATGGTGATCTTGCTCAACATCG

Phenotype

MIM: 605268

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

JPH3 PubMed Links

Gene Details

Gene

JPH3

Gene Name

junctophilin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271604.2	2447	Intron			NP_001258533.1
NM_001271605.1	2447	Intron			NP_001258534.1
NM_020655.3	2447	Silent Mutation	GTA,GTG	V729V	NP_065706.2
XM_017023483.1	2447	Intron			XP_016878972.1
XM_017023484.1	2447	Intron			XP_016878973.1

Gene

KLHDC4

Gene Name

kelch domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184854.1	2447	Intron			NP_001171783.1
NM_001184856.1	2447	Intron			NP_001171785.1
NM_017566.3	2447	Intron			NP_060036.2
XM_005255994.3	2447	Intron			XP_005256051.1
XM_005255999.1	2447	Intron			XP_005256056.1
XM_006721201.1	2447	Intron			XP_006721264.1
XM_006721202.1	2447	Intron			XP_006721265.1
XM_006721203.2	2447	Intron			XP_006721266.1
XM_006721204.3	2447	UTR 3			XP_006721267.1
XM_017023344.1	2447	Intron			XP_016878833.1
XM_017023345.1	2447	Intron			XP_016878834.1

Gene

LOC100129215

Gene Name

uncharacterized LOC100129215

There are no transcripts associated with this gene.

Gene

LOC105371397

Gene Name

uncharacterized LOC105371397

There are no transcripts associated with this gene.

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