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SNP ID: rs57315945
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:43054287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTACAGGGATATCAGCTTTGGGCA[A/G]AAGCAGAAGGCAGCTTCACGTAACT
Phenotype: MIM: 609577 MIM: 611822
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CUL7 PubMed Links

Gene Details

Gene: CUL7
Gene Name: cullin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168370.1	890	Intron			NP_001161842.1
NM_014780.4	890	Intron			NP_055595.2
XM_005249503.2	890	Intron			XP_005249560.1
XM_006715285.1	890	Intron			XP_006715348.1
XM_011515019.2	890	Intron			XP_011513321.1
XM_011515020.2	890	Intron			XP_011513322.1
XM_011515021.1	890	Intron			XP_011513323.1
XM_017011533.1	890	Intron			XP_016867022.1
XM_017011534.1	890	Intron			XP_016867023.1
XM_017011535.1	890	Intron			XP_016867024.1
XM_017011536.1	890	Intron			XP_016867025.1
XM_017011537.1	890	Intron			XP_016867026.1
XM_017011538.1	890	Intron			XP_016867027.1
XM_017011539.1	890	Intron			XP_016867028.1
XM_017011540.1	890	Intron			XP_016867029.1

Gene: KLC4
Gene Name: kinesin light chain 4

There are no transcripts associated with this gene.

Gene: MRPL2
Gene Name: mitochondrial ribosomal protein L2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300848.1	890	UTR 3			NP_001287777.1
NM_015950.4	890	Missense Mutation	TCT,TTT	S302F	NP_057034.2
XM_005249161.4	890	Missense Mutation	TCT,TTT	S270F	XP_005249218.1

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