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SNP ID: rs9912315
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:7260487 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GAGAGCAGTGCACCTCCCAGGATGA[A/C]TAGGGCAGACCCTGCCCAGCCAATA
Phenotype: MIM: 609131 MIM: 610684 MIM: 615019
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: CLDN7 PubMed Links

Gene Details

Gene: CLDN7
Gene Name: claudin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001185022.1	1425	Missense Mutation	ATC,CTC	I175L	NP_001171951.1
NM_001185023.1	1425	Silent Mutation	TAA,TAC	*146Y	NP_001171952.1
NM_001307.5	1425	Missense Mutation	ATC,CTC	I175L	NP_001298.3

Gene: CTDNEP1
Gene Name: CTD nuclear envelope phosphatase 1

There are no transcripts associated with this gene.

Gene: ELP5
Gene Name: elongator acetyltransferase complex subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015362.4	1425	Intron			NP_056177.3
NM_203413.2	1425	Intron			NP_981958.1
NM_203414.2	1425	Intron			NP_981959.1
NM_203415.1	1425	Intron			NP_981960.1
XM_011523779.2	1425	Intron			XP_011522081.1

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