Product Details

SNP ID

rs201397239

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:4355291 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGCCACTCACTACTCACCCACT[C/T]GTCCTCGTCCACGCCTTCAAAGGAG

Phenotype

MIM: 611668 MIM: 614336

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CORO7 PubMed Links

Gene Details

Gene

CORO7

Gene Name

coronin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201472.1	2955	Missense Mutation	AAG,GAG	K905E	NP_001188401.1
NM_001201473.1	2955	Missense Mutation	AAG,GAG	K838E	NP_001188402.1
NM_024535.4	2955	Missense Mutation	AAG,GAG	K923E	NP_078811.3

Gene

CORO7-PAM16

Gene Name

CORO7-PAM16 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201479.1	2955	Missense Mutation	AAG,GAG	K923E	NP_001188408.1

Gene

PAM16

Gene Name

presequence translocase-associated motor 16 homolog (S. cerevisiae)

There are no transcripts associated with this gene.

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