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SNP ID: rs4790503
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:3511565 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTGGTAAACCTACCTAGGCTCAGA[C/T]GTTTTGGCTGAAAGCCTTTTGGGGT
Phenotype: MIM: 608034 MIM: 607066
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ASPA PubMed Links

Gene Details

Gene: ASPA
Gene Name: aspartoacylase

There are no transcripts associated with this gene.

Gene: SPATA22
Gene Name: spermatogenesis associated 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170695.1	5047	Intron			NP_001164166.1
NM_001170696.1	5047	Intron			NP_001164167.1
NM_001170697.1	5047	Intron			NP_001164168.1
NM_001170698.1	5047	Intron			NP_001164169.1
NM_001170699.1	5047	Intron			NP_001164170.1
NM_001321336.1	5047	Intron			NP_001308265.1
NM_001321337.1	5047	Intron			NP_001308266.1
NM_032598.4	5047	Intron			NP_115987.2

Gene: TRPV3
Gene Name: transient receptor potential cation channel subfamily V member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258205.1	5047	UTR 3			NP_001245134.1
NM_145068.3	5047	UTR 3			NP_659505.1

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