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CTCTTCTGTCTTGCCATTTCCTGTC[C/T]CAGGGCACAGATAGAAGCTTCTCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 602426 | ||||||||||||||||||||
Literature Links: |
LOC101927164 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
LOC101927164 - uncharacterized LOC101927164 | ||||||
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There are no transcripts associated with this gene. |
NVL - nuclear VCP-like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243146.1 | 2478 | Missense Mutation | AGA,GGA | R,G 617 | NP_001230075.1 | |
NM_001243147.1 | 2478 | Missense Mutation | AGA,GGA | R,G 715 | NP_001230076.1 | |
NM_002533.3 | 2478 | Missense Mutation | AGA,GGA | R,G 806 | NP_002524.2 | |
NM_206840.2 | 2478 | Missense Mutation | AGA,GGA | R,G 700 | NP_996671.1 | |
XM_011544196.1 | 2478 | Missense Mutation | AGA,GGA | R,G 833 | XP_011542498.1 | |
XM_011544198.1 | 2478 | Missense Mutation | AGA,GGA | R,G 727 | XP_011542500.1 | |
XM_011544199.1 | 2478 | Missense Mutation | AGA,GGA | R,G 715 | XP_011542501.1 | |
XM_011544200.1 | 2478 | Missense Mutation | AGA,GGA | R,G 715 | XP_011542502.1 | |
XM_017001378.1 | 2478 | Missense Mutation | AGA,GGA | R,G 867 | XP_016856867.1 | |
XM_017001379.1 | 2478 | Missense Mutation | AGA,GGA | R,G 840 | XP_016856868.1 | |
XM_017001380.1 | 2478 | Missense Mutation | AGA,GGA | R,G 867 | XP_016856869.1 | |
XM_017001381.1 | 2478 | Missense Mutation | AGA,GGA | R,G 789 | XP_016856870.1 | |
XM_017001382.1 | 2478 | Missense Mutation | AGA,GGA | R,G 789 | XP_016856871.1 | |
XM_017001383.1 | 2478 | Missense Mutation | AGA,GGA | R,G 762 | XP_016856872.1 | |
XM_017001384.1 | 2478 | Intron | XP_016856873.1 | |||
XM_017001385.1 | 2478 | Intron | XP_016856874.1 | |||
XM_017001386.1 | 2478 | Missense Mutation | AGA,GGA | R,G 688 | XP_016856875.1 |