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SNP ID: rs142910532
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:4340326 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGGGGGGAGCCGAGCAGTCACGTA[C/T]GGGGCATCTGCCCTTTTTCTCTGTC
Phenotype: MIM: 608539 MIM: 614336
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CORO7-PAM16 PubMed Links

Gene Details

Gene: CORO7-PAM16
Gene Name: CORO7-PAM16 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201479.1	509	Missense Mutation	CAT,CGT	H1047R	NP_001188408.1

Gene: GLIS2
Gene Name: GLIS family zinc finger 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318918.1	509	Intron			NP_001305847.1
NM_032575.2	509	Intron			NP_115964.2
XM_005255641.4	509	Intron			XP_005255698.1

Gene: PAM16
Gene Name: presequence translocase-associated motor 16 homolog (S. cerevisiae)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016069.9	509	Missense Mutation	CAT,CGT	H124R	NP_057153.8

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