Product Details

SNP ID

rs146501326

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:34459045 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGAAGGCTCCCCATAAACAGCCT[C/T]ATAAGCAGGTAACGTACGCACACCT

Phenotype

MIM: 604366

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAI1 PubMed Links

Gene Details

Gene

DNAI1

Gene Name

dynein axonemal intermediate chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281428.1	294	Missense Mutation	CAT,TAT	H14Y	NP_001268357.1
NM_012144.3	294	Missense Mutation	CAT,TAT	H14Y	NP_036276.1
XM_006716758.3	294	Intron			XP_006716821.1
XM_011517846.1	294	Missense Mutation	CAT,TAT	H14Y	XP_011516148.1
XM_011517847.2	294	Missense Mutation	CAT,TAT	H14Y	XP_011516149.1
XM_011517848.1	294	Missense Mutation	CAT,TAT	H14Y	XP_011516150.1
XM_011517849.1	294	Missense Mutation	CAT,TAT	H14Y	XP_011516151.1
XM_011517850.2	294	Missense Mutation	CAT,TAT	H14Y	XP_011516152.1
XM_017014625.1	294	Missense Mutation	CAT,TAT	H14Y	XP_016870114.1

Gene

FAM219A

Gene Name

family with sequence similarity 219 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184940.1	294	Intron			NP_001171869.1
NM_001184941.1	294	Intron			NP_001171870.1
NM_001184942.1	294	Intron			NP_001171871.1
NM_001184943.1	294	Intron			NP_001171872.1
NM_001184945.1	294	Intron			NP_001171874.1
NM_147202.1	294	Intron			NP_671735.1
XM_005251402.4	294	Intron			XP_005251459.1
XM_011517797.2	294	Intron			XP_011516099.1
XM_011517798.2	294	Intron			XP_011516100.1
XM_011517799.2	294	Intron			XP_011516101.1

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